| Gender |
|
|
| Male |
69.2% |
36/52 |
| Female |
30.8% |
16/52 |
| Indifferent |
0% |
0/52 |
| Unknown |
0% |
0/52 |
| General |
|
|
| Birth Length abnormalities |
13.2% |
5/38 |
| < P3 : Birth length less than 3rd percentile |
13.2% |
5/38 |
| Birth Weight abnormalities |
21.1% |
8/38 |
| > P98 : Large for gestational age |
2.6% |
1/38 |
| < P3 : Small for gestational age |
18.4% |
7/38 |
| Birth Head circumference abnormalities |
15.8% |
6/38 |
| < P3 : Primary microcephaly |
15.8% |
6/38 |
| Current Height abnormalities |
13.5% |
7/52 |
| > P98 : Tall stature |
5.8% |
3/52 |
| < P3 : Short stature |
7.7% |
4/52 |
| Current Weight abnormalities |
36.5% |
19/52 |
| > P98 : Increased body weight |
25.0% |
13/52 |
| < P3 : Decreased body weight |
11.5% |
6/52 |
| Current Head circumference abnormalities |
28.0% |
14/50 |
| < P3 : Microcephaly |
20.0% |
10/50 |
| > P98 : Macrocephaly |
8.0% |
4/50 |
| Neurology |
|
|
| Neurological abnormalities |
92.2% |
47/51 |
| Global developmental delay |
86.3% |
44/51 |
| Generalized hypotonia |
45.1% |
23/51 |
| Seizure |
9.8% |
5/51 |
| Bilateral tonic-clonic seizure |
7.8% |
4/51 |
| Absent speech |
3.9% |
2/51 |
| Borderline intellectual disability |
3.9% |
2/51 |
| Developmental regression |
3.9% |
2/51 |
| Floppy infant |
3.9% |
2/51 |
| Gait disturbance |
3.9% |
2/51 |
| obsolete Infantile axial hypotonia |
3.9% |
2/51 |
| Severe muscular hypotonia |
3.9% |
2/51 |
| Speech apraxia |
3.9% |
2/51 |
| Abnormal emotional state |
2.0% |
1/51 |
| Abnormal cerebellum morphology |
2.0% |
1/51 |
| Arachnoid cyst |
2.0% |
1/51 |
| Atonic seizure |
2.0% |
1/51 |
| Facial hypotonia |
2.0% |
1/51 |
| Focal-onset seizure |
2.0% |
1/51 |
| Focal impaired awareness seizure |
2.0% |
1/51 |
| Generalized non-motor (absence) seizure |
2.0% |
1/51 |
| Generalized myoclonic seizure |
2.0% |
1/51 |
| Generalized myoclonic-atonic seizure |
2.0% |
1/51 |
| Horizontal nystagmus |
2.0% |
1/51 |
| Impaired pain sensation |
2.0% |
1/51 |
| obsolete Poor motor coordination |
2.0% |
1/51 |
| Photosensitive myoclonic seizure |
2.0% |
1/51 |
| Poor hand-eye coordination |
2.0% |
1/51 |
| Profound intellectual disability |
2.0% |
1/51 |
| Scanning speech |
2.0% |
1/51 |
| Torticollis |
2.0% |
1/51 |
| Behavioral problems |
82.0% |
41/50 |
| Sleep disturbance |
26.0% |
13/50 |
| Anxiety |
20.0% |
10/50 |
| Autism |
20.0% |
10/50 |
| obsolete Impaired social interactions |
20.0% |
10/50 |
| Attention deficit hyperactivity disorder |
14.0% |
7/50 |
| Abnormal emotional state |
12.0% |
6/50 |
| Aggressive behavior |
10.0% |
5/50 |
| Autistic behavior |
10.0% |
5/50 |
| Hyperactivity |
10.0% |
5/50 |
| Short attention span |
10.0% |
5/50 |
| Global developmental delay |
6.0% |
3/50 |
| Polyphagia |
6.0% |
3/50 |
| Motor stereotypy |
4.0% |
2/50 |
| Personality disorder |
4.0% |
2/50 |
| Reduced eye contact |
4.0% |
2/50 |
| Self-injurious behavior |
4.0% |
2/50 |
| Abnormal fear-induced behavior |
2.0% |
1/50 |
| Abnormal eating behavior |
2.0% |
1/50 |
| Head-banging |
2.0% |
1/50 |
| Inappropriate behavior |
2.0% |
1/50 |
| Motor tics |
2.0% |
1/50 |
| obsolete Abnormal aggressive, impulsive or violent behavior |
2.0% |
1/50 |
| Oppositional defiant disorder |
2.0% |
1/50 |
| Recurrent hand flapping |
2.0% |
1/50 |
| Skin-picking |
2.0% |
1/50 |
| Sleep-wake cycle disturbance |
2.0% |
1/50 |
| Stereotypical hand wringing |
2.0% |
1/50 |
| Brain abnormality |
36.6% |
15/41 |
| Choroid plexus cyst |
4.9% |
2/41 |
| Lateral ventricle dilatation |
4.9% |
2/41 |
| Syringomyelia |
4.9% |
2/41 |
| Ventriculomegaly |
4.9% |
2/41 |
| Abnormal arachnoid mater morphology |
2.4% |
1/41 |
| Abnormal cerebral cortex morphology |
2.4% |
1/41 |
| Abnormal corpus callosum morphology |
2.4% |
1/41 |
| Abnormal cortical gyration |
2.4% |
1/41 |
| Abnormal morphology of the limbic system |
2.4% |
1/41 |
| Anterior hypopituitarism |
2.4% |
1/41 |
| Aplasia/Hypoplasia of the brainstem |
2.4% |
1/41 |
| Cerebral white matter atrophy |
2.4% |
1/41 |
| Chiari malformation |
2.4% |
1/41 |
| Cortical dysplasia |
2.4% |
1/41 |
| Enlarged cerebellum |
2.4% |
1/41 |
| Hydrocephalus |
2.4% |
1/41 |
| Lateral ventricular asymmetry |
2.4% |
1/41 |
| Morphological central nervous system abnormality |
2.4% |
1/41 |
| Periventricular cysts |
2.4% |
1/41 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
42.9% |
21/49 |
| Macrotia |
22.4% |
11/49 |
| Low-set ears |
12.2% |
6/49 |
| Protruding ear |
6.1% |
3/49 |
| Posteriorly rotated ears |
4.1% |
2/49 |
| Uplifted earlobe |
4.1% |
2/49 |
| Abnormal antihelix morphology |
2.0% |
1/49 |
| Abnormal pinna morphology |
2.0% |
1/49 |
| Absent earlobe |
2.0% |
1/49 |
| Anterior creases of earlobe |
2.0% |
1/49 |
| Anteverted ears |
2.0% |
1/49 |
| Attached earlobe |
2.0% |
1/49 |
| Cupped ear |
2.0% |
1/49 |
| Horizontal crus of helix |
2.0% |
1/49 |
| Microtia |
2.0% |
1/49 |
| obsolete Low-set, posteriorly rotated ears |
2.0% |
1/49 |
| Prominent tragus |
2.0% |
1/49 |
| Prominent ear helix |
2.0% |
1/49 |
| Abnormality of the eye |
82.0% |
41/50 |
| Long eyelashes |
22.0% |
11/50 |
| Epicanthus |
18.0% |
9/50 |
| Long palpebral fissure |
18.0% |
9/50 |
| Upslanted palpebral fissure |
14.0% |
7/50 |
| Highly arched eyebrow |
12.0% |
6/50 |
| Thick eyebrow |
12.0% |
6/50 |
| Downslanted palpebral fissures |
10.0% |
5/50 |
| Hypertelorism |
10.0% |
5/50 |
| Deeply set eye |
8.0% |
4/50 |
| Abnormal eyelid morphology |
6.0% |
3/50 |
| Hypotelorism |
6.0% |
3/50 |
| Narrow palpebral fissure |
6.0% |
3/50 |
| Bilateral ptosis |
4.0% |
2/50 |
| Broad eyebrow |
4.0% |
2/50 |
| Laterally curved eyebrow |
4.0% |
2/50 |
| obsolete Sparse and thin eyebrow |
4.0% |
2/50 |
| Proptosis |
4.0% |
2/50 |
| Abnormality of the palpebral fissures |
2.0% |
1/50 |
| Abnormally large globe |
2.0% |
1/50 |
| Abnormal retinal pigmentation |
2.0% |
1/50 |
| Abnormal eye morphology |
2.0% |
1/50 |
| Accessory eyelid |
2.0% |
1/50 |
| Blepharochalasis |
2.0% |
1/50 |
| Blue irides |
2.0% |
1/50 |
| Epicanthus inversus |
2.0% |
1/50 |
| Horizontal eyebrow |
2.0% |
1/50 |
| Medial flaring of the eyebrow |
2.0% |
1/50 |
| Nasolacrimal duct obstruction |
2.0% |
1/50 |
| Periorbital fullness |
2.0% |
1/50 |
| Periorbital edema |
2.0% |
1/50 |
| Prominent eyelashes |
2.0% |
1/50 |
| Short palpebral fissure |
2.0% |
1/50 |
| Synophrys |
2.0% |
1/50 |
| Unilateral ptosis |
2.0% |
1/50 |
| Abnormality of the nose |
44.9% |
22/49 |
| Wide nasal bridge |
16.3% |
8/49 |
| Bulbous nose |
12.2% |
6/49 |
| Anteverted nares |
8.2% |
4/49 |
| Underdeveloped nasal alae |
8.2% |
4/49 |
| Depressed nasal bridge |
4.1% |
2/49 |
| Low hanging columella |
4.1% |
2/49 |
| Prominent nasal bridge |
4.1% |
2/49 |
| Abnormal nasal dorsum morphology |
2.0% |
1/49 |
| Absent crus of helix |
2.0% |
1/49 |
| Broad nasal tip |
2.0% |
1/49 |
| Depressed nasal ridge |
2.0% |
1/49 |
| Flared nostrils |
2.0% |
1/49 |
| Long nose |
2.0% |
1/49 |
| obsolete Large beaked nose |
2.0% |
1/49 |
| Pear-shaped nose |
2.0% |
1/49 |
| Prominent nose |
2.0% |
1/49 |
| Prominent nasal tip |
2.0% |
1/49 |
| Short nose |
2.0% |
1/49 |
| Wide nose |
2.0% |
1/49 |
| Abnormality of the mouth |
70.8% |
34/48 |
| Thin upper lip vermilion |
39.6% |
19/48 |
| Exaggerated cupid's bow |
20.8% |
10/48 |
| Smooth philtrum |
16.7% |
8/48 |
| Broad philtrum |
8.3% |
4/48 |
| Thick lower lip vermilion |
8.3% |
4/48 |
| Everted lower lip vermilion |
6.3% |
3/48 |
| Long philtrum |
6.3% |
3/48 |
| Narrow mouth |
6.3% |
3/48 |
| Short philtrum |
6.3% |
3/48 |
| Tented upper lip vermilion |
6.3% |
3/48 |
| Thick upper lip vermilion |
6.3% |
3/48 |
| Bifid uvula |
4.2% |
2/48 |
| Incisor macrodontia |
4.2% |
2/48 |
| Micrognathia |
4.2% |
2/48 |
| Microretrognathia |
4.2% |
2/48 |
| Wide mouth |
4.2% |
2/48 |
| Abnormal upper lip morphology |
2.1% |
1/48 |
| Ankyloglossia |
2.1% |
1/48 |
| Bilateral cleft lip |
2.1% |
1/48 |
| Cleft maxillary alveolar ridge |
2.1% |
1/48 |
| Cleft palate |
2.1% |
1/48 |
| Delayed eruption of teeth |
2.1% |
1/48 |
| Dental malocclusion |
2.1% |
1/48 |
| Downturned corners of mouth |
2.1% |
1/48 |
| High palate |
2.1% |
1/48 |
| Misalignment of incisors |
2.1% |
1/48 |
| Narrow palate |
2.1% |
1/48 |
| Short uvula |
2.1% |
1/48 |
| Submucous cleft soft palate |
2.1% |
1/48 |
| Supernumerary maxillary incisor |
2.1% |
1/48 |
| Thin lower lip vermilion |
2.1% |
1/48 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
6.5% |
3/46 |
| Bilateral sensorineural hearing impairment |
2.2% |
1/46 |
| Low-frequency hearing loss |
2.2% |
1/46 |
| Progressive conductive hearing impairment |
2.2% |
1/46 |
| Abnormal vision |
48.9% |
23/47 |
| Strabismus |
27.7% |
13/47 |
| Hypermetropia |
8.5% |
4/47 |
| Alternating esotropia |
4.3% |
2/47 |
| Amblyopia |
4.3% |
2/47 |
| Optic nerve hypoplasia |
4.3% |
2/47 |
| Abnormality of eye movement |
2.1% |
1/47 |
| Abnormal retinal pigmentation |
2.1% |
1/47 |
| Abnormal conjugate eye movement |
2.1% |
1/47 |
| Cerebral visual impairment |
2.1% |
1/47 |
| Deeply set eye |
2.1% |
1/47 |
| Developmental cataract |
2.1% |
1/47 |
| Duane anomaly |
2.1% |
1/47 |
| Esotropia |
2.1% |
1/47 |
| High myopia |
2.1% |
1/47 |
| Microphthalmia |
2.1% |
1/47 |
| Nuclear cataract |
2.1% |
1/47 |
| Nystagmus |
2.1% |
1/47 |
| Persistent pupillary membrane |
2.1% |
1/47 |
| Retinal detachment |
2.1% |
1/47 |
| Shallow anterior chamber |
2.1% |
1/47 |
| Heart |
|
|
| Abnormality of the heart |
9.1% |
4/44 |
| Aortic aneurysm |
2.3% |
1/44 |
| Atrial septal defect |
2.3% |
1/44 |
| Cardiomyopathy |
2.3% |
1/44 |
| Left ventricular hypertrophy |
2.3% |
1/44 |
| Secundum atrial septal defect |
2.3% |
1/44 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
46.8% |
22/47 |
| Constipation |
21.3% |
10/47 |
| Feeding difficulties |
17.0% |
8/47 |
| Gastroesophageal reflux |
12.8% |
6/47 |
| Vomiting |
6.4% |
3/47 |
| Episodic vomiting |
4.3% |
2/47 |
| Nasogastric tube feeding in infancy |
4.3% |
2/47 |
| Esophagitis |
2.1% |
1/47 |
| Feeding difficulties in infancy |
2.1% |
1/47 |
| Gastrostomy tube feeding in infancy |
2.1% |
1/47 |
| Polyphagia |
2.1% |
1/47 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
14.9% |
7/47 |
| Cryptorchidism |
4.3% |
2/47 |
| Hydronephrosis |
4.3% |
2/47 |
| Coronal hypospadias |
2.1% |
1/47 |
| Dilatation of the renal pelvis |
2.1% |
1/47 |
| Enuresis |
2.1% |
1/47 |
| Inguinal hernia |
2.1% |
1/47 |
| Macroorchidism |
2.1% |
1/47 |
| Polyhydramnios |
2.1% |
1/47 |
| Unilateral cryptorchidism |
2.1% |
1/47 |
| Urinary retention |
2.1% |
1/47 |
| Skeleton |
|
|
| Skeletal abnormalities |
72.3% |
34/47 |
| Tapered finger |
14.9% |
7/47 |
| Brachydactyly |
12.8% |
6/47 |
| Clinodactyly of the 5th finger |
12.8% |
6/47 |
| Plagiocephaly |
12.8% |
6/47 |
| Sandal gap |
12.8% |
6/47 |
| Pes planus |
10.6% |
5/47 |
| Brachycephaly |
8.5% |
4/47 |
| Increased laxity of fingers |
8.5% |
4/47 |
| obsolete Joint laxity |
8.5% |
4/47 |
| Broad foot |
6.4% |
3/47 |
| Broad hallux |
6.4% |
3/47 |
| Hyperextensibility at elbow |
6.4% |
3/47 |
| Scoliosis |
6.4% |
3/47 |
| Short palm |
6.4% |
3/47 |
| Small hand |
6.4% |
3/47 |
| Clinodactyly |
4.3% |
2/47 |
| Genu valgum |
4.3% |
2/47 |
| Increased femoral anteversion |
4.3% |
2/47 |
| Joint hypermobility |
4.3% |
2/47 |
| Osteopenia |
4.3% |
2/47 |
| Pectus excavatum of inferior sternum |
4.3% |
2/47 |
| Positional foot deformity |
4.3% |
2/47 |
| Reduced bone mineral density |
4.3% |
2/47 |
| Short foot |
4.3% |
2/47 |
| Slender long bone |
4.3% |
2/47 |
| Tibial torsion |
4.3% |
2/47 |
| Abnormal epiphysis morphology |
2.1% |
1/47 |
| Abnormal anterior fontanelle morphology |
2.1% |
1/47 |
| Abnormality of the metopic suture |
2.1% |
1/47 |
| Abnormal thorax morphology |
2.1% |
1/47 |
| Aplasia/Hypoplasia of the distal phalanges of the toes |
2.1% |
1/47 |
| Aplasia/Hypoplasia of the mandible |
2.1% |
1/47 |
| Aplasia/Hypoplasia of the 3rd toe |
2.1% |
1/47 |
| Arachnodactyly |
2.1% |
1/47 |
| Bilateral coxa valga |
2.1% |
1/47 |
| Broad distal phalanges of all fingers |
2.1% |
1/47 |
| Broad thumb |
2.1% |
1/47 |
| Broad distal hallux |
2.1% |
1/47 |
| Broad finger |
2.1% |
1/47 |
| Clinodactyly of the 5th toe |
2.1% |
1/47 |
| Clinodactyly of the 4th toe |
2.1% |
1/47 |
| Clinodactyly of the 3rd toe |
2.1% |
1/47 |
| Clinodactyly of the 2nd toe |
2.1% |
1/47 |
| Cone-shaped epiphysis of the distal phalanx of the 5th finger |
2.1% |
1/47 |
| Cone-shaped epiphyses of the phalanges of the hand |
2.1% |
1/47 |
| Coxa vara |
2.1% |
1/47 |
| Craniosynostosis |
2.1% |
1/47 |
| Cubitus valgus |
2.1% |
1/47 |
| Deep plantar creases |
2.1% |
1/47 |
| Delayed skeletal maturation |
2.1% |
1/47 |
| Enlarged epiphyses of the hallux |
2.1% |
1/47 |
| Flat occiput |
2.1% |
1/47 |
| Hypoplastic ilia |
2.1% |
1/47 |
| Joint contracture of the 5th finger |
2.1% |
1/47 |
| Metatarsus adductus |
2.1% |
1/47 |
| Metopic synostosis |
2.1% |
1/47 |
| Micrognathia |
2.1% |
1/47 |
| Microcephaly |
2.1% |
1/47 |
| Narrow chest |
2.1% |
1/47 |
| obsolete Abnormality of calvarial morphology |
2.1% |
1/47 |
| Osteochondritis dissecans |
2.1% |
1/47 |
| Patellar subluxation |
2.1% |
1/47 |
| Polysyndactyly of hallux |
2.1% |
1/47 |
| Postaxial polysyndactyly of foot |
2.1% |
1/47 |
| Postaxial hand polydactyly |
2.1% |
1/47 |
| Prominent occiput |
2.1% |
1/47 |
| Recurrent fractures |
2.1% |
1/47 |
| Retrognathia |
2.1% |
1/47 |
| Sagittal craniosynostosis |
2.1% |
1/47 |
| Sclerotic radial epiphyses |
2.1% |
1/47 |
| Short finger |
2.1% |
1/47 |
| Short middle phalanx of the 5th finger |
2.1% |
1/47 |
| Short toe |
2.1% |
1/47 |
| Short middle phalanx of the 2nd finger |
2.1% |
1/47 |
| Short metatarsal |
2.1% |
1/47 |
| Skull asymmetry |
2.1% |
1/47 |
| Slender finger |
2.1% |
1/47 |
| Small epiphyses of the distal phalanges of the hand |
2.1% |
1/47 |
| Small epiphyses |
2.1% |
1/47 |
| Structural foot deformity |
2.1% |
1/47 |
| Thoracolumbar scoliosis |
2.1% |
1/47 |
| Trigonocephaly |
2.1% |
1/47 |
| 2-3 toe syndactyly |
2.1% |
1/47 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
50.0% |
24/48 |
| Prominent fingertip pads |
12.5% |
6/48 |
| Eczematoid dermatitis |
8.3% |
4/48 |
| Single transverse palmar crease |
6.3% |
3/48 |
| Sparse hair |
6.3% |
3/48 |
| Deep palmar crease |
4.2% |
2/48 |
| Hyperconvex nail |
4.2% |
2/48 |
| Hypoplastic toenails |
4.2% |
2/48 |
| Multiple cafe-au-lait spots |
4.2% |
2/48 |
| Soft skin |
4.2% |
2/48 |
| Abnormal fingernail morphology |
2.1% |
1/48 |
| Abnormality of the palmar creases |
2.1% |
1/48 |
| Axillary freckling |
2.1% |
1/48 |
| Cutis laxa |
2.1% |
1/48 |
| Deep longitudinal plantar crease |
2.1% |
1/48 |
| Deep plantar creases |
2.1% |
1/48 |
| Dry skin |
2.1% |
1/48 |
| Fragile skin |
2.1% |
1/48 |
| Generalized hypertrichosis |
2.1% |
1/48 |
| Hemangioma |
2.1% |
1/48 |
| Hirsutism |
2.1% |
1/48 |
| Hyperhidrosis |
2.1% |
1/48 |
| Hypertrichosis |
2.1% |
1/48 |
| Hypopigmentation of the skin |
2.1% |
1/48 |
| Hypoplastic fingernail |
2.1% |
1/48 |
| Hypoplastic fifth toenail |
2.1% |
1/48 |
| Ingrown nail |
2.1% |
1/48 |
| Inguinal freckling |
2.1% |
1/48 |
| Localized hirsutism |
2.1% |
1/48 |
| Periauricular skin pits |
2.1% |
1/48 |
| Redundant skin in infancy |
2.1% |
1/48 |
| Skin pit |
2.1% |
1/48 |
| Small nail |
2.1% |
1/48 |
| Striae distensae |
2.1% |
1/48 |
| Thin nail |
2.1% |
1/48 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
2.1% |
1/47 |
| Diabetes mellitus |
2.1% |
1/47 |
| Abnormality of the immune system |
23.4% |
11/47 |
| Recurrent otitis media |
10.6% |
5/47 |
| Recurrent respiratory infections |
6.4% |
3/47 |
| Recurrent infections |
6.4% |
3/47 |
| Recurrent upper respiratory tract infections |
4.3% |
2/47 |
| Recurrent pharyngitis |
2.1% |
1/47 |
| Recurrent urinary tract infections |
2.1% |
1/47 |
| Recurrent sinusitis |
2.1% |
1/47 |