Patient Overview : 150

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 56.1% 83/148
Female 43.9% 65/148
General    
Birth Length abnormalities 11.5% 18/157
< P3 : Birth length less than 3rd percentile 10.2% 16/157
> P98 : Birth length greater than 97th percentile 1.3% 2/157
Birth Weight abnormalities 17.3% 28/162
> P98 : Large for gestational age 0.6% 1/162
< P3 : Small for gestational age 16.7% 27/162
Birth Head circumference abnormalities 8.9% 14/157
< P3 : Congenital microcephaly 7.6% 12/157
> P98 : Macrocephaly at birth 1.3% 2/157
Current Height abnormalities 42.5% 71/167
< P3 : Short stature 40.7% 68/167
> P98 : Tall stature 1.8% 3/167
Current Weight abnormalities 20.6% 33/160
> P98 : Increased body weight 6.3% 10/160
< P3 : Decreased body weight 14.4% 23/160
Current Head circumference abnormalities 14.2% 23/162
< P3 : Microcephaly 12.3% 20/162
> P98 : Macrocephaly 1.9% 3/162
Neurology    
Neurological abnormalities 51.1% 69/135
Seizures 14.1% 19/135
Global developmental delay 10.4% 14/135
Generalized hypotonia 8.9% 12/135
Generalized tonic-clonic seizures 8.1% 11/135
Poor coordination 8.1% 11/135
Absence seizures 6.7% 9/135
Mild global developmental delay 4.4% 6/135
Delayed speech and language development 3.7% 5/135
Focal seizures 3.7% 5/135
Febrile seizures 3.0% 4/135
Generalized seizures 3.0% 4/135
Migraine 3.0% 4/135
Motor delay 3.0% 4/135
Pain insensitivity 3.0% 4/135
Delayed gross motor development 2.2% 3/135
Gait imbalance 2.2% 3/135
Generalized myoclonic seizures 2.2% 3/135
Memory impairment 2.2% 3/135
Migraine with aura 2.2% 3/135
Poor fine motor coordination 2.2% 3/135
Ataxia 1.5% 2/135
Atonic seizures 1.5% 2/135
Cerebral palsy 1.5% 2/135
Delayed fine motor development 1.5% 2/135
Dysarthria 1.5% 2/135
Dyslexia 1.5% 2/135
Expressive language delay 1.5% 2/135
Gait disturbance 1.5% 2/135
Generalized tonic seizures 1.5% 2/135
Generalized neonatal hypotonia 1.5% 2/135
Hand tremor 1.5% 2/135
Impaired pain sensation 1.5% 2/135
Intellectual disability 1.5% 2/135
Intellectual disability, mild 1.5% 2/135
Muscular hypotonia 1.5% 2/135
Syncope 1.5% 2/135
Unilateral strabismus 1.5% 2/135
Vertigo 1.5% 2/135
Abnormal muscle tone 0.7% 1/135
Abnormality of fontanelles 0.7% 1/135
Abnormality of pain sensation 0.7% 1/135
Abnormality of the temporomandibular joint 0.7% 1/135
Abnormality of the vestibular nerve 0.7% 1/135
Absent speech 0.7% 1/135
Anterior pituitary hypoplasia 0.7% 1/135
Anxiety 0.7% 1/135
Attention deficit hyperactivity disorder 0.7% 1/135
Brain atrophy 0.7% 1/135
Broad-based gait 0.7% 1/135
Central apnea 0.7% 1/135
Central hypotonia 0.7% 1/135
Delayed social development 0.7% 1/135
Delayed closure of the anterior fontanelle 0.7% 1/135
Dementia 0.7% 1/135
Dyscalculia 0.7% 1/135
Dysgraphia 0.7% 1/135
Dysphagia 0.7% 1/135
EEG abnormality 0.7% 1/135
EEG with generalized polymorphic epileptiform discharges 0.7% 1/135
EEG with generalized epileptiform discharges 0.7% 1/135
Facial hypotonia 0.7% 1/135
Focal seizures with impairment of consciousness or awareness 0.7% 1/135
Focal tonic seizures 0.7% 1/135
Focal myoclonic seizures 0.7% 1/135
Frequent falls 0.7% 1/135
Gait ataxia 0.7% 1/135
Gelastic seizures 0.7% 1/135
Generalized clonic seizures 0.7% 1/135
Headache 0.7% 1/135
High pitched voice 0.7% 1/135
Hyperextensibility of the knee 0.7% 1/135
Impaired tactile sensation 0.7% 1/135
Impaired distal tactile sensation 0.7% 1/135
Increased intracranial pressure 0.7% 1/135
Infantile muscular hypotonia 0.7% 1/135
Joint hypermobility 0.7% 1/135
Kinetic tremor 0.7% 1/135
Limb dystonia 0.7% 1/135
Moderate global developmental delay 0.7% 1/135
Muscular hypotonia of the trunk 0.7% 1/135
Myoclonus 0.7% 1/135
Myokymia 0.7% 1/135
Neonatal hypotonia 0.7% 1/135
Paresthesia 0.7% 1/135
Polymorphic focal epileptiform discharges 0.7% 1/135
Poor suck 0.7% 1/135
Poor eye contact 0.7% 1/135
Poor motor coordination 0.7% 1/135
Short attention span 0.7% 1/135
Shuffling gait 0.7% 1/135
Shyness 0.7% 1/135
Sleep disturbance 0.7% 1/135
Sleep myoclonus 0.7% 1/135
Slowed slurred speech 0.7% 1/135
Spastic diplegia 0.7% 1/135
Specific learning disability 0.7% 1/135
Speech articulation difficulties 0.7% 1/135
Synovitis 0.7% 1/135
Tachypnea 0.7% 1/135
Tethered cord 0.7% 1/135
Truncal ataxia 0.7% 1/135
Behavioral problems 86.5% 109/126
Attention deficit hyperactivity disorder 34.9% 44/126
Autism 32.5% 41/126
Anxiety 15.1% 19/126
Short attention span 13.5% 17/126
Delayed speech and language development 9.5% 12/126
Obsessive-compulsive behavior 9.5% 12/126
Aggressive behavior 8.7% 11/126
Impaired social interactions 8.7% 11/126
Impulsivity 7.9% 10/126
Autistic behavior 5.6% 7/126
Oppositional defiant disorder 4.8% 6/126
Abnormal aggressive, impulsive or violent behavior 4.0% 5/126
Behavioral abnormality 4.0% 5/126
Hyperactivity 4.0% 5/126
Repetitive compulsive behavior 4.0% 5/126
Global developmental delay 3.2% 4/126
Mild global developmental delay 3.2% 4/126
Poor eye contact 3.2% 4/126
Recurrent hand flapping 3.2% 4/126
Abnormal emotion/affect behavior 2.4% 3/126
Autism with high cognitive abilities 2.4% 3/126
Developmental regression 2.4% 3/126
Expressive language delay 2.4% 3/126
Inappropriate sexual behavior 2.4% 3/126
Self-injurious behavior 2.4% 3/126
Sensory impairment 2.4% 3/126
Specific learning disability 2.4% 3/126
Absent speech 1.6% 2/126
Delayed gross motor development 1.6% 2/126
Depression 1.6% 2/126
Inflexible adherence to routines or rituals 1.6% 2/126
Intellectual disability, mild 1.6% 2/126
Irritability 1.6% 2/126
Receptive language delay 1.6% 2/126
Restlessness 1.6% 2/126
Stereotypic behavior 1.6% 2/126
Tics 1.6% 2/126
Violent behavior 1.6% 2/126
Abnormal social behavior 0.8% 1/126
Abnormal eating behavior 0.8% 1/126
Abnormal fear/anxiety-related behavior 0.8% 1/126
Apathy 0.8% 1/126
Cognitive impairment 0.8% 1/126
Decreased facial expression 0.8% 1/126
Delayed fine motor development 0.8% 1/126
Dyslexia 0.8% 1/126
Emotional lability 0.8% 1/126
Enuresis nocturna 0.8% 1/126
Inappropriate behavior 0.8% 1/126
Insomnia 0.8% 1/126
Intellectual disability, moderate 0.8% 1/126
Low frustration tolerance 0.8% 1/126
Moderate global developmental delay 0.8% 1/126
Motor delay 0.8% 1/126
No social interaction 0.8% 1/126
Pain insensitivity 0.8% 1/126
Pica 0.8% 1/126
Poor gross motor coordination 0.8% 1/126
Precocious puberty 0.8% 1/126
Psychosis 0.8% 1/126
Self-biting 0.8% 1/126
Sensory neuropathy 0.8% 1/126
Severe expressive language delay 0.8% 1/126
Shyness 0.8% 1/126
Sleep disturbance 0.8% 1/126
Slurred speech 0.8% 1/126
Tongue thrusting 0.8% 1/126
Brain abnormality 26.9% 25/93
EEG abnormality 5.4% 5/93
Brain atrophy 3.2% 3/93
Arachnoid cyst 2.2% 2/93
Heterotopia 2.2% 2/93
Abnormality of the sella turcica 1.1% 1/93
Abnormal length of corpus callosum 1.1% 1/93
Abnormality of brain morphology 1.1% 1/93
Abnormality of the spinal cord 1.1% 1/93
Aplasia/Hypoplasia of the corpus callosum 1.1% 1/93
Aplasia/Hypoplasia of the cerebellar vermis 1.1% 1/93
Ataxia 1.1% 1/93
Cerebellar hypoplasia 1.1% 1/93
Choroid plexus cyst 1.1% 1/93
Colpocephaly 1.1% 1/93
Deformed sella turcica 1.1% 1/93
Delayed CNS myelination 1.1% 1/93
Delayed closure of the anterior fontanelle 1.1% 1/93
Dysplastic corpus callosum 1.1% 1/93
Hydrocephalus 1.1% 1/93
Macrocephaly 1.1% 1/93
Meningitis 1.1% 1/93
Microcephaly 1.1% 1/93
Optic nerve hypoplasia 1.1% 1/93
Perivascular spaces 1.1% 1/93
Pineal cyst 1.1% 1/93
Posterior fossa cyst 1.1% 1/93
Retrocerebellar cyst 1.1% 1/93
Small pituitary gland 1.1% 1/93
Subdural hemorrhage 1.1% 1/93
Ventriculomegaly 1.1% 1/93
Facial abnormalities    
Abnormality of the ear 52.9% 72/136
Protruding ear 23.5% 32/136
Macrotia 22.1% 30/136
Low-set ears 10.3% 14/136
Large fleshy ears 3.7% 5/136
Large earlobe 2.9% 4/136
Anteverted ears 2.2% 3/136
Low-set, posteriorly rotated ears 2.2% 3/136
Preauricular skin tag 2.2% 3/136
Uplifted earlobe 2.2% 3/136
Abnormality of earlobe 1.5% 2/136
Abnormality of the pinna 1.5% 2/136
Attached earlobe 1.5% 2/136
Bilateral conductive hearing impairment 1.5% 2/136
Chronic otitis media 1.5% 2/136
Periauricular skin pits 1.5% 2/136
Posteriorly rotated ears 1.5% 2/136
Preauricular pit 1.5% 2/136
Abnormality of the helix 0.7% 1/136
Abnormality of the antihelix 0.7% 1/136
Abnormality of the Eustachian tube 0.7% 1/136
Abnormality of the tympanic membrane 0.7% 1/136
Aplasia/Hypoplasia of the external ear 0.7% 1/136
Asymmetry of the ears 0.7% 1/136
Blocked Eustachian tube 0.7% 1/136
Cholesteatoma 0.7% 1/136
Conductive hearing impairment 0.7% 1/136
Cupped ear 0.7% 1/136
Hypoplastic helices 0.7% 1/136
Long eyelashes 0.7% 1/136
Prominent eyelashes 0.7% 1/136
Prominent antihelix 0.7% 1/136
Prominent ear helix 0.7% 1/136
Recurrent otitis media 0.7% 1/136
Recurrent infections 0.7% 1/136
Skin dimples 0.7% 1/136
Thickened helices 0.7% 1/136
Abnormality of the eye 60.3% 82/136
Hypertelorism 17.6% 24/136
Long eyelashes 16.9% 23/136
Synophrys 14.0% 19/136
Thick eyebrow 13.2% 18/136
Strabismus 5.9% 8/136
Upslanted palpebral fissure 5.1% 7/136
Amblyopia 3.7% 5/136
Anteverted nares 3.7% 5/136
Downslanted palpebral fissures 3.7% 5/136
Large eyes 2.9% 4/136
Long eyebrows 2.9% 4/136
Prominent eyelashes 2.9% 4/136
Highly arched eyebrow 2.2% 3/136
Myopia 2.2% 3/136
Abnormality of vision 1.5% 2/136
Abnormal eye morphology 1.5% 2/136
Astigmatism 1.5% 2/136
Epicanthus 1.5% 2/136
Horizontal eyebrow 1.5% 2/136
Long palpebral fissure 1.5% 2/136
Nystagmus 1.5% 2/136
Prominent epicanthal folds 1.5% 2/136
Short palpebral fissure 1.5% 2/136
Unilateral strabismus 1.5% 2/136
Abnormal shape of the palpebral fissure 0.7% 1/136
Abnormality of the palpebral fissures 0.7% 1/136
Abnormality of the cornea 0.7% 1/136
Abnormality of the conjunctiva 0.7% 1/136
Abnormality of the eyelashes 0.7% 1/136
Abnormality of the eyelid 0.7% 1/136
Almond-shaped palpebral fissure 0.7% 1/136
Bilateral ptosis 0.7% 1/136
Blepharitis 0.7% 1/136
Congenital strabismus 0.7% 1/136
Congenital nystagmus 0.7% 1/136
Congenital bilateral ptosis 0.7% 1/136
Deeply set eye 0.7% 1/136
Difficulty adjusting from dark to light 0.7% 1/136
Entropion 0.7% 1/136
Esotropia 0.7% 1/136
Exotropia 0.7% 1/136
Hyperopic astigmatism 0.7% 1/136
Hypotelorism 0.7% 1/136
Iris coloboma 0.7% 1/136
Lacrimal duct aplasia 0.7% 1/136
Nasolacrimal duct obstruction 0.7% 1/136
Proptosis 0.7% 1/136
Ptosis 0.7% 1/136
Sparse eyelashes 0.7% 1/136
Telecanthus 0.7% 1/136
Abnormality of the nose 75.9% 104/137
Abnormality of the nose 33.6% 46/137
Bulbous nose 24.1% 33/137
Wide nasal bridge 21.2% 29/137
Anteverted nares 19.0% 26/137
Prominent nasal bridge 14.6% 20/137
Wide nasal base 10.9% 15/137
Prominent nasal tip 10.2% 14/137
Broad nasal tip 7.3% 10/137
Wide nose 2.9% 4/137
Depressed nasal bridge 2.2% 3/137
Abnormality of the nasal tip 1.5% 2/137
Long philtrum 1.5% 2/137
Short nose 1.5% 2/137
Abnormal nasal base 0.7% 1/137
Abnormal size of nasopharyngeal adenoids 0.7% 1/137
Abnormality of the nasal bridge 0.7% 1/137
Absent nasal bridge 0.7% 1/137
Bulbous tips of toes 0.7% 1/137
Choanal atresia 0.7% 1/137
Chronic sinusitis 0.7% 1/137
Deviated nasal septum 0.7% 1/137
Hypertelorism 0.7% 1/137
Hypoplastic frontal sinuses 0.7% 1/137
Hypoplastic nasal bridge 0.7% 1/137
Short columella 0.7% 1/137
Thin anteverted nares 0.7% 1/137
Abnormality of the mouth 93.5% 130/139
Macrodontia 41.7% 58/139
Thin upper lip vermilion 11.5% 16/139
Thin vermilion border 10.1% 14/139
Macrodontia of permanent maxillary central incisor 8.6% 12/139
Long philtrum 7.2% 10/139
Carious teeth 6.5% 9/139
Exaggerated cupid's bow 6.5% 9/139
High palate 6.5% 9/139
Incisor macrodontia 5.8% 8/139
Abnormality of upper lip vermillion 4.3% 6/139
Dental crowding 4.3% 6/139
Wide mouth 4.3% 6/139
Abnormality of dental enamel 3.6% 5/139
Abnormality of the teeth 3.6% 5/139
Tented upper lip vermilion 3.6% 5/139
Thick vermilion border 3.6% 5/139
Dental malocclusion 2.9% 4/139
Persistence of primary teeth 2.9% 4/139
Retrognathia 2.9% 4/139
Tented philtrum 2.9% 4/139
Thick lower lip vermilion 2.9% 4/139
Ankyloglossia 2.2% 3/139
High, narrow palate 2.2% 3/139
Abnormality of the philtrum 1.4% 2/139
Bifid uvula 1.4% 2/139
Hypodontia 1.4% 2/139
Misalignment of teeth 1.4% 2/139
Narrow palate 1.4% 2/139
Open bite 1.4% 2/139
Tongue thrusting 1.4% 2/139
Velopharyngeal insufficiency 1.4% 2/139
Abnormality of the maxilla 0.7% 1/139
Abnormality of dental morphology 0.7% 1/139
Abnormality of the hard palate 0.7% 1/139
Abnormality of oral frenula 0.7% 1/139
Abnormality of the soft palate 0.7% 1/139
Abnormality of the palate 0.7% 1/139
Abnormal number of teeth 0.7% 1/139
Abnormality of lower lip 0.7% 1/139
Abnormal number of permanent teeth 0.7% 1/139
Abnormal jaw morphology 0.7% 1/139
Broad philtrum 0.7% 1/139
Cleft soft palate 0.7% 1/139
Deep philtrum 0.7% 1/139
Delayed eruption of teeth 0.7% 1/139
Dental enamel pits 0.7% 1/139
Hypoplasia of teeth 0.7% 1/139
Jaw ankylosis 0.7% 1/139
Long upper lip 0.7% 1/139
Macrotia 0.7% 1/139
Micrognathia 0.7% 1/139
Narrow jaw 0.7% 1/139
Overbite 0.7% 1/139
Premature loss of teeth 0.7% 1/139
Premature loss of primary teeth 0.7% 1/139
Rotated maxillary central incisors 0.7% 1/139
Short lingual frenulum 0.7% 1/139
Taurodontia 0.7% 1/139
Triangular mouth 0.7% 1/139
Trismus 0.7% 1/139
Unilateral cleft lip 0.7% 1/139
U-Shaped upper lip vermilion 0.7% 1/139
Yellow-brown discoloration of the teeth 0.7% 1/139
Visual and hearing impairments    
Abnormal hearing 49.3% 69/140
Conductive hearing impairment 12.9% 18/140
Hearing impairment 10.7% 15/140
Bilateral conductive hearing impairment 8.6% 12/140
Abnormality of the Eustachian tube 2.9% 4/140
Bilateral sensorineural hearing impairment 2.9% 4/140
Hearing abnormality 2.1% 3/140
Mixed hearing impairment 2.1% 3/140
Otitis media 2.1% 3/140
Abnormality of the tympanic membrane 1.4% 2/140
Mild hearing impairment 1.4% 2/140
Sensorineural hearing impairment 1.4% 2/140
Stenosis of the Eustachian tube 1.4% 2/140
Apnea 0.7% 1/140
Enlarged vestibular aqueduct 0.7% 1/140
Impacted cerumen 0.7% 1/140
Low-frequency hearing loss 0.7% 1/140
Recurrent otitis media 0.7% 1/140
Unilateral deafness 0.7% 1/140
Abnormal vision 58.6% 78/133
Astigmatism 16.5% 22/133
Myopia 15.0% 20/133
Strabismus 13.5% 18/133
Hypermetropia 11.3% 15/133
Amblyopia 7.5% 10/133
Abnormality of vision 6.0% 8/133
Visual impairment 4.5% 6/133
Hyperopic astigmatism 3.0% 4/133
Anisometropia 2.3% 3/133
Nystagmus 2.3% 3/133
Blurred vision 1.5% 2/133
Unilateral strabismus 1.5% 2/133
Cataract 0.8% 1/133
Congenital bilateral ptosis 0.8% 1/133
Cortical visual impairment 0.8% 1/133
Difficulty adjusting from dark to light 0.8% 1/133
Esotropia 0.8% 1/133
Horizontal nystagmus 0.8% 1/133
Intermediate uveitis 0.8% 1/133
Peripheral visual field loss 0.8% 1/133
Heart    
Abnormality of the heart 26.2% 37/141
Ventricular septal defect 9.2% 13/141
Atria septal defect 5.7% 8/141
Patent foramen ovale 4.3% 6/141
Heart murmur 3.5% 5/141
Abnormality of the mitral valve 2.1% 3/141
Aortic aneurysm 1.4% 2/141
Bicuspid aortic valve 1.4% 2/141
Mitral regurgitation 1.4% 2/141
Pericardial effusion 1.4% 2/141
Persistent left superior vena cava 1.4% 2/141
Abnormality of the coronary arteries 0.7% 1/141
Abnormality of the endocardium 0.7% 1/141
Abnormality of the atrial septum 0.7% 1/141
Abnormal heart morphology 0.7% 1/141
Abnormality of the heart valves 0.7% 1/141
Abnormality of cardiac atrium 0.7% 1/141
Abnormality of the aortic valve 0.7% 1/141
Arrhythmia 0.7% 1/141
Atrial fibrillation 0.7% 1/141
Atrioventricular canal defect 0.7% 1/141
Bradycardia 0.7% 1/141
Cardiomegaly 0.7% 1/141
Cardiac arrest 0.7% 1/141
Coarctation of aorta 0.7% 1/141
Dilated cardiomyopathy 0.7% 1/141
Exercise intolerance 0.7% 1/141
Patent ductus arteriosus after birth at term 0.7% 1/141
Primum atrial septal defect 0.7% 1/141
Sinus tachycardia 0.7% 1/141
Tetralogy of Fallot 0.7% 1/141
Tetralogy of Fallot with pulmonary stenosis 0.7% 1/141
Pulmonary    
Abnormality of the lungs 5.1% 4/79
Asthma 3.8% 3/79
Pulmonary hypoplasia 1.3% 1/79
Gastrointestinal    
Gastrointestinal abnormalities 51.7% 75/145
Feeding difficulties 26.2% 38/145
Gastroesophageal reflux 17.9% 26/145
Feeding difficulties in infancy 12.4% 18/145
Constipation 8.3% 12/145
Vomiting 7.6% 11/145
Nasogastric tube feeding in infancy 4.8% 7/145
Abdominal pain 3.4% 5/145
Chronic constipation 3.4% 5/145
Episodic vomiting 3.4% 5/145
Dysphagia 2.8% 4/145
Poor suck 2.8% 4/145
Gastrostomy tube feeding in infancy 2.1% 3/145
Diarrhea 1.4% 2/145
Hiatus hernia 1.4% 2/145
Inguinal hernia 1.4% 2/145
Projectile vomiting 1.4% 2/145
Abdominal colic 0.7% 1/145
Abdominal distention 0.7% 1/145
Aspiration 0.7% 1/145
Bowel urgency 0.7% 1/145
Bowel incontinence 0.7% 1/145
Celiac disease 0.7% 1/145
Chewing difficulties 0.7% 1/145
Chronic diarrhea 0.7% 1/145
Chylothorax 0.7% 1/145
Crohn's disease 0.7% 1/145
Delayed self-feeding during toddler years 0.7% 1/145
Episodic abdominal pain 0.7% 1/145
Esophagitis 0.7% 1/145
Exocrine pancreatic insufficiency 0.7% 1/145
Food intolerance 0.7% 1/145
Gastroparesis 0.7% 1/145
Gastrointestinal obstruction 0.7% 1/145
Hernia 0.7% 1/145
Hypoglycemia 0.7% 1/145
Intestinal malrotation 0.7% 1/145
Nausea 0.7% 1/145
Nausea and vomiting 0.7% 1/145
Oral aversion 0.7% 1/145
Poor appetite 0.7% 1/145
Rectal prolapse 0.7% 1/145
Recurrent candida infections 0.7% 1/145
Umbilical hernia 0.7% 1/145
Weight loss 0.7% 1/145
Urogenital    
Abnormality of the urogenital system 30.7% 42/137
Cryptorchidism 12.4% 17/137
Hypospadias 2.9% 4/137
Recurrent urinary tract infections 2.9% 4/137
Inguinal hernia 2.2% 3/137
Abnormality of the renal collecting system 1.5% 2/137
Abnormality of the kidney 1.5% 2/137
Bilateral cryptorchidism 1.5% 2/137
Abnormality of the urethra 0.7% 1/137
Abnormality of the bladder 0.7% 1/137
Benign prostatic hyperplasia 0.7% 1/137
Congenital absence of foreskin 0.7% 1/137
Enuresis nocturna 0.7% 1/137
Enuresis diurna 0.7% 1/137
Enuresis 0.7% 1/137
Functional abnormality of the bladder 0.7% 1/137
Hydronephrosis 0.7% 1/137
Hydrocele testis 0.7% 1/137
Infertility 0.7% 1/137
Phimosis 0.7% 1/137
Pollakisuria 0.7% 1/137
Polycystic ovaries 0.7% 1/137
Polyuria 0.7% 1/137
Testicular torsion 0.7% 1/137
Unilateral cryptorchidism 0.7% 1/137
Urinary incontinence 0.7% 1/137
Vesicoureteral reflux 0.7% 1/137
Skeleton    
Skeletal abnormalities 86.1% 124/144
Pes planus 18.1% 26/144
Short stature 14.6% 21/144
Clinodactyly of the 5th finger 13.2% 19/144
Delayed skeletal maturation 13.2% 19/144
Scoliosis 13.2% 19/144
Brachydactyly syndrome 9.0% 13/144
Brachycephaly 8.3% 12/144
Clinodactyly 6.9% 10/144
Generalized hypotonia 5.6% 8/144
Hip dysplasia 5.6% 8/144
Kyphosis 4.9% 7/144
Sacral dimple 4.9% 7/144
Small hand 4.9% 7/144
Large fontanelles 4.2% 6/144
Macrocephaly 4.2% 6/144
Pectus excavatum 4.2% 6/144
Abnormality of the ribs 3.5% 5/144
2-3 toe syndactyly 3.5% 5/144
Muscular hypotonia 2.8% 4/144
Short 5th finger 2.8% 4/144
Abnormality of the hip joint 2.1% 3/144
Abnormality of the hand 2.1% 3/144
Kyphoscoliosis 2.1% 3/144
Microcephaly 2.1% 3/144
Mild short stature 2.1% 3/144
Plagiocephaly 2.1% 3/144
Sandal gap 2.1% 3/144
Short foot 2.1% 3/144
Toe clinodactyly 2.1% 3/144
Abnormality of the thumb 1.4% 2/144
Abnormality of the anterior fontanelle 1.4% 2/144
Abnormality of the foot 1.4% 2/144
Abnormality of the hallux 1.4% 2/144
Abnormality of the ankles 1.4% 2/144
Achilles tendon contracture 1.4% 2/144
Cervical kyphosis 1.4% 2/144
Cervical ribs 1.4% 2/144
Delayed cranial suture closure 1.4% 2/144
Delayed closure of the anterior fontanelle 1.4% 2/144
Dysharmonic delayed bone age 1.4% 2/144
Flat occiput 1.4% 2/144
Generalized osteoporosis 1.4% 2/144
Lumbar hyperlordosis 1.4% 2/144
Muscular hypotonia of the trunk 1.4% 2/144
Osteopenia 1.4% 2/144
Severe short stature 1.4% 2/144
Single transverse palmar crease 1.4% 2/144
Thoracic kyphosis 1.4% 2/144
Toe walking 1.4% 2/144
Unilateral brachydactyly 1.4% 2/144
Wide anterior fontanel 1.4% 2/144
Abnormality of the middle phalanx of the 2nd finger 0.7% 1/144
Abnormality of the femur 0.7% 1/144
Abnormal axial skeleton morphology 0.7% 1/144
Abnormal form of the vertebral bodies 0.7% 1/144
Abnormal bone ossification 0.7% 1/144
Abnormal morphology of bones of the lower limbs 0.7% 1/144
Abnormality of the 5th finger 0.7% 1/144
Abnormality of the thorax 0.7% 1/144
Abnormal joint morphology 0.7% 1/144
Abnormality of the vertebrae 0.7% 1/144
Abnormality of the palmar creases 0.7% 1/144
Abnormality of the middle phalanx of the 5th finger 0.7% 1/144
Abnormality of the vertebral endplates 0.7% 1/144
Abnormality of the rib cage 0.7% 1/144
Abnormality of the vertebral column 0.7% 1/144
Abnormal tendon morphology 0.7% 1/144
Abnormality of the hip bone 0.7% 1/144
Ankle clonus 0.7% 1/144
Aplasia/Hypoplasia of the maxilla 0.7% 1/144
Aplasia/Hypoplasia of the middle phalanges of the hand 0.7% 1/144
Avascular necrosis of the capital femoral epiphysis 0.7% 1/144
Back pain 0.7% 1/144
Bilateral single transverse palmar creases 0.7% 1/144
Bone cyst 0.7% 1/144
Broad palm 0.7% 1/144
Broad forehead 0.7% 1/144
Broad toe 0.7% 1/144
Camptodactyly of finger 0.7% 1/144
Camptodactyly 0.7% 1/144
Central hypotonia 0.7% 1/144
Clinodactyly of the 5th toe 0.7% 1/144
Congenital hip dislocation 0.7% 1/144
Coxa valga 0.7% 1/144
Craniosynostosis 0.7% 1/144
Curved fingers 0.7% 1/144
Dolichocephaly 0.7% 1/144
Down-sloping shoulders 0.7% 1/144
Finger joint hypermobility 0.7% 1/144
Flattened moderately deformed vertebrae 0.7% 1/144
Gait ataxia 0.7% 1/144
Gait disturbance 0.7% 1/144
Hallux varus 0.7% 1/144
Hypermobility of toe joints 0.7% 1/144
Hyperlordosis 0.7% 1/144
Hypocalcemia 0.7% 1/144
Increased susceptibility to fractures 0.7% 1/144
Intrauterine growth retardation 0.7% 1/144
Joint contracture of the hand 0.7% 1/144
Limb joint contracture 0.7% 1/144
Limited pronation/supination of forearm 0.7% 1/144
Lower thoracic kyphosis 0.7% 1/144
Lower limb pain 0.7% 1/144
Lumbar scoliosis 0.7% 1/144
Metatarsus adductus 0.7% 1/144
Multiple palmar creases 0.7% 1/144
Osteochondritis Dissecans 0.7% 1/144
Painless fractures due to injury 0.7% 1/144
Patellar dislocation 0.7% 1/144
Pectus carinatum 0.7% 1/144
Pelvic bone asymmetry 0.7% 1/144
Persistent open anterior fontanelle 0.7% 1/144
Postaxial hand polydactyly 0.7% 1/144
Proportionate short stature 0.7% 1/144
Pseudoepiphyses of second metacarpal 0.7% 1/144
Sacralization of the fifth lumbar vertebra 0.7% 1/144
Scapular winging 0.7% 1/144
Short hallux 0.7% 1/144
Shortening of all middle phalanges of the fingers 0.7% 1/144
Short finger 0.7% 1/144
Short toe 0.7% 1/144
Short humerus 0.7% 1/144
Short digit 0.7% 1/144
Short lower limbs 0.7% 1/144
Shortening of all distal phalanges of the fingers 0.7% 1/144
Short palm 0.7% 1/144
Shortening of all proximal phalanges of the fingers 0.7% 1/144
Small for gestational age 0.7% 1/144
Spina bifida occulta 0.7% 1/144
Syndactyly 0.7% 1/144
Tapered finger 0.7% 1/144
Tethered cord 0.7% 1/144
Thoracolumbar scoliosis 0.7% 1/144
Tibial torsion 0.7% 1/144
Toe syndactyly 0.7% 1/144
Trigonocephaly 0.7% 1/144
Unsteady gait 0.7% 1/144
Upper limb undergrowth 0.7% 1/144
Wormian bones 0.7% 1/144
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 38.6% 54/140
Abnormality of the skin 15.7% 22/140
Low anterior hairline 6.4% 9/140
Single transverse palmar crease 2.9% 4/140
Coarse hair 2.1% 3/140
Dry skin 2.1% 3/140
Dystrophic toenail 2.1% 3/140
Eczema 2.1% 3/140
Fingernail dysplasia 2.1% 3/140
Hyperkeratosis pilaris 2.1% 3/140
Macrodontia of permanent maxillary central incisor 2.1% 3/140
Cutis marmorata 1.4% 2/140
Facial hirsutism 1.4% 2/140
Hirsutism 1.4% 2/140
Inverted nipples 1.4% 2/140
Low posterior hairline 1.4% 2/140
Psoriasis 1.4% 2/140
Abnormality of dental eruption 0.7% 1/140
Abnormality of the palmar creases 0.7% 1/140
Abnormality of the scalp 0.7% 1/140
Abnormality of the fingernails 0.7% 1/140
Abnormality of the frontal hairline 0.7% 1/140
Abnormal hair whorl 0.7% 1/140
Abnormality of the nipple 0.7% 1/140
Abnormality of the nail 0.7% 1/140
Absent toenail 0.7% 1/140
Acne 0.7% 1/140
Atopic dermatitis 0.7% 1/140
Atypical scarring of skin 0.7% 1/140
Cafe-au-lait spot 0.7% 1/140
Cellulitis 0.7% 1/140
Clinodactyly of the 5th finger 0.7% 1/140
Cyst of the eyelid 0.7% 1/140
Dental malocclusion 0.7% 1/140
Fine hair 0.7% 1/140
Frontal upsweep of hair 0.7% 1/140
Hypertrichosis 0.7% 1/140
Increased number of teeth 0.7% 1/140
Multiple plantar creases 0.7% 1/140
Nevus 0.7% 1/140
Prominent eyelashes 0.7% 1/140
Recurrent fungal infections 0.7% 1/140
Sacral dimple 0.7% 1/140
Small nail 0.7% 1/140
Sparse hair 0.7% 1/140
Sparse anterior scalp hair 0.7% 1/140
Thick hair 0.7% 1/140
Thin skin 0.7% 1/140
Umbilical hernia 0.7% 1/140
Urticaria 0.7% 1/140
Vitiligo 0.7% 1/140
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 13.3% 18/135
Growth hormone deficiency 4.4% 6/135
Precocious puberty in females 1.5% 2/135
Abnormal glucose homeostasis 0.7% 1/135
Abnormality of folate metabolism 0.7% 1/135
Adrenal insufficiency 0.7% 1/135
Decreased serum insulin-like growth factor 1 0.7% 1/135
Diabetes mellitus 0.7% 1/135
Dysharmonic delayed bone age 0.7% 1/135
Facial hirsutism 0.7% 1/135
Fatigue 0.7% 1/135
Generalized osteoporosis 0.7% 1/135
Generalized hirsutism 0.7% 1/135
Hirsutism 0.7% 1/135
Hyperglycemia 0.7% 1/135
Hypoglycemia 0.7% 1/135
Hypohidrotic ectodermal dysplasia 0.7% 1/135
Increased circulating ACTH level 0.7% 1/135
Juvenile rheumatoid arthritis 0.7% 1/135
Menstrual irregularities 0.7% 1/135
Neonatal hypoglycemia 0.7% 1/135
Polydipsia 0.7% 1/135
Polyuria 0.7% 1/135
Short stature 0.7% 1/135
Small pituitary gland 0.7% 1/135
Thyroid-stimulating hormone excess 0.7% 1/135
Abnormality of the metabolic system 20.0% 28/140
Slender build 4.3% 6/140
Abnormality of temperature regulation 3.6% 5/140
Failure to thrive 2.9% 4/140
Pain insensitivity 2.9% 4/140
Sleep disturbance 2.9% 4/140
Chronic fatigue 2.1% 3/140
Failure to thrive in infancy 2.1% 3/140
Impaired pain sensation 2.1% 3/140
Abnormality of body weight 1.4% 2/140
Anemia 1.4% 2/140
Apnea 1.4% 2/140
Abnormality of copper homeostasis 0.7% 1/140
Abnormality of alkaline phosphatase activity 0.7% 1/140
Abnormal platelet function 0.7% 1/140
Abnormality of pain sensation 0.7% 1/140
Absence of subcutaneous fat 0.7% 1/140
Aspiration 0.7% 1/140
Asthma 0.7% 1/140
Bruising susceptibility 0.7% 1/140
Congenital diaphragmatic hernia 0.7% 1/140
Cyanotic episode 0.7% 1/140
Edema 0.7% 1/140
Erythrocyte macrocytosis 0.7% 1/140
Generalized edema 0.7% 1/140
Hamstring contractures 0.7% 1/140
Hyperbilirubinemia 0.7% 1/140
Impaired temperature sensation 0.7% 1/140
Inguinal hernia 0.7% 1/140
Iron deficiency anemia 0.7% 1/140
Jaundice 0.7% 1/140
Neonatal respiratory distress 0.7% 1/140
Postnatal growth retardation 0.7% 1/140
Prolonged neonatal jaundice 0.7% 1/140
Pulmonary edema 0.7% 1/140
Reduced factor VII activity 0.7% 1/140
Sleep apnea 0.7% 1/140
Small for gestational age 0.7% 1/140
Umbilical hernia 0.7% 1/140
Weight loss 0.7% 1/140
Abnormality of the immune system 17.2% 23/134
Allergy 3.0% 4/134
Recurrent otitis media 3.0% 4/134
Recurrent infections in infancy and early childhood 1.5% 2/134
Recurrent sinusitis 1.5% 2/134
Sinusitis 1.5% 2/134
Abnormal size of nasopharyngeal adenoids 0.7% 1/134
Abnormality of cellular immune system 0.7% 1/134
Abnormality of T cells 0.7% 1/134
Abnormality of B cells 0.7% 1/134
Abnormal immunoglobulin level 0.7% 1/134
Allergic rhinitis 0.7% 1/134
Celiac disease 0.7% 1/134
Cellular immunodeficiency 0.7% 1/134
Chronic sinusitis 0.7% 1/134
Cow milk allergy 0.7% 1/134
Episodic fever 0.7% 1/134
Esophagitis 0.7% 1/134
Immunodeficiency 0.7% 1/134
Increased size of nasopharyngeal adenoids 0.7% 1/134
Juvenile rheumatoid arthritis 0.7% 1/134
Leukopenia 0.7% 1/134
Lymphopenia 0.7% 1/134
Pancytopenia 0.7% 1/134
Pneumonia 0.7% 1/134
Psoriasis 0.7% 1/134
Recurrent infections 0.7% 1/134
Recurrent upper respiratory tract infections 0.7% 1/134
Rheumatoid arthritis 0.7% 1/134
Seasonal allergy 0.7% 1/134