Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 44.4% 4/9
Female 55.6% 5/9
General    
Birth Length abnormalities 22.2% 2/9
< P3 : Birth length less than 3rd percentile 22.2% 2/9
Birth Weight abnormalities 77.8% 7/9
< P3 : Small for gestational age 77.8% 7/9
Birth Head circumference abnormalities 11.1% 1/9
< P3 : Congenital microcephaly 11.1% 1/9
Current Height abnormalities 66.7% 6/9
< P3 : Short stature 66.7% 6/9
Current Weight abnormalities 22.2% 2/9
< P3 : Decreased body weight 22.2% 2/9
Current Head circumference abnormalities 33.3% 3/9
> P98 : Macrocephaly 11.1% 1/9
< P3 : Microcephaly 22.2% 2/9
Neurology    
Neurological abnormalities 55.6% 5/9
Muscular hypotonia 44.4% 4/9
Febrile seizures 11.1% 1/9
Memory impairment 11.1% 1/9
Migraine 11.1% 1/9
Nystagmus 11.1% 1/9
Poor motor coordination 11.1% 1/9
Seizures 11.1% 1/9
Specific learning disability 11.1% 1/9
Behavioral problems 44.4% 4/9
Autistic behavior 11.1% 1/9
Impaired social interactions 11.1% 1/9
Short attention span 11.1% 1/9
Sleep disturbance 11.1% 1/9
Stereotypic behavior 11.1% 1/9
Brain abnormality 28.6% 2/7
CNS demyelination 14.3% 1/7
Delayed myelination 14.3% 1/7
Hypoplasia of the corpus callosum 14.3% 1/7
Ventriculomegaly 14.3% 1/7
Facial abnormalities    
Abnormality of the ear 66.7% 6/9
Preauricular skin tag 55.6% 5/9
Low-set ears 33.3% 3/9
Macrotia 22.2% 2/9
Abnormality of the helix 11.1% 1/9
Low-set, posteriorly rotated ears 11.1% 1/9
Abnormality of the eye 77.8% 7/9
Periorbital fullness 44.4% 4/9
Deeply set eye 33.3% 3/9
Downslanted palpebral fissures 22.2% 2/9
Hypertelorism 22.2% 2/9
Blepharophimosis 11.1% 1/9
Abnormality of the nose 55.6% 5/9
Broad nasal tip 11.1% 1/9
Deviated nasal septum 11.1% 1/9
Prominent nose 11.1% 1/9
Wide nose 11.1% 1/9
Wide nasal bridge 11.1% 1/9
Abnormality of the mouth 66.7% 6/9
Dental crowding 22.2% 2/9
Retrognathia 22.2% 2/9
Abnormality of the mandible 11.1% 1/9
Bifid uvula 11.1% 1/9
Dental malocclusion 11.1% 1/9
Exaggerated cupid's bow 11.1% 1/9
Misalignment of teeth 11.1% 1/9
Submucous cleft soft palate 11.1% 1/9
Thick upper lip vermilion 11.1% 1/9
Thin upper lip vermilion 11.1% 1/9
Wide mouth 11.1% 1/9
Visual and hearing impairments    
Abnormal hearing 44.4% 4/9
Hearing impairment 22.2% 2/9
Conductive hearing impairment 11.1% 1/9
Severe sensorineural hearing impairment 11.1% 1/9
Abnormal vision 44.4% 4/9
Strabismus 22.2% 2/9
Abnormality of refraction 11.1% 1/9
Astigmatism 11.1% 1/9
Heart    
Abnormality of the heart 33.3% 3/9
Atria septal defect 22.2% 2/9
Abnormality of the aortic arch 11.1% 1/9
Patent foramen ovale 11.1% 1/9
Ventricular septal defect 11.1% 1/9
Gastrointestinal    
Gastrointestinal abnormalities 11.1% 1/9
Chronic constipation 11.1% 1/9
Lactose intolerance 11.1% 1/9
Urogenital    
Abnormality of the urogenital system 44.4% 4/9
Hypospadias 33.3% 3/9
Aplasia/Hypoplasia of the testes 11.1% 1/9
Azoospermia 11.1% 1/9
Bilateral cryptorchidism 11.1% 1/9
Chordee 11.1% 1/9
Cryptorchidism 11.1% 1/9
Hydronephrosis 11.1% 1/9
Micropenis 11.1% 1/9
Skeleton    
Skeletal abnormalities 77.8% 7/9
Arachnodactyly 33.3% 3/9
Broad toe 33.3% 3/9
Clinodactyly of the 5th finger 11.1% 1/9
Congenital hip dislocation 11.1% 1/9
Facial cleft 11.1% 1/9
Joint hypermobility 11.1% 1/9
Metatarsus adductus 11.1% 1/9
Overlapping toe 11.1% 1/9
Postaxial polydactyly 11.1% 1/9
Sandal gap 11.1% 1/9
Short distal phalanx of toe 11.1% 1/9
Short fifth metatarsal 11.1% 1/9
Short neck 11.1% 1/9
Short fourth metatarsal 11.1% 1/9
Talipes equinovarus 11.1% 1/9
Tapered finger 11.1% 1/9
Toe clinodactyly 11.1% 1/9
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 9/9
Eczema 33.3% 3/9
Sacral dimple 33.3% 3/9
Nail dysplasia 22.2% 2/9
Small nail 22.2% 2/9
Abnormality of the palmar creases 11.1% 1/9
Abnormal bone ossification 11.1% 1/9
Abnormality of skin pigmentation 11.1% 1/9
Arachnodactyly 11.1% 1/9
Low anterior hairline 11.1% 1/9
Low posterior hairline 11.1% 1/9
Scrotal hyperpigmentation 11.1% 1/9
Skin dimples 11.1% 1/9
Sparse hair 11.1% 1/9
Sparse lateral eyebrow 11.1% 1/9
Synophrys 11.1% 1/9
Thick eyebrow 11.1% 1/9
Webbed neck 11.1% 1/9
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 33.3% 3/9
Adrenal hyperplasia 22.2% 2/9
Hypothyroidism 11.1% 1/9
Abnormality of the immune system 44.4% 4/9
Recurrent respiratory infections 22.2% 2/9
Chronic otitis media 11.1% 1/9
Recurrent infections 11.1% 1/9
Recurrent otitis media 11.1% 1/9
Recurrent urinary tract infections 11.1% 1/9