Gender |
|
|
Male |
68.1% |
32/47 |
Female |
31.9% |
15/47 |
Indifferent |
0% |
0/47 |
Unknown |
0% |
0/47 |
General |
|
|
Birth Length abnormalities |
12.1% |
4/33 |
< P3 : Birth length less than 3rd percentile |
12.1% |
4/33 |
Birth Weight abnormalities |
21.2% |
7/33 |
> P98 : Large for gestational age |
3.0% |
1/33 |
< P3 : Small for gestational age |
18.2% |
6/33 |
Birth Head circumference abnormalities |
15.2% |
5/33 |
< P3 : Congenital microcephaly |
15.2% |
5/33 |
Current Height abnormalities |
12.8% |
6/47 |
> P98 : Tall stature |
6.4% |
3/47 |
< P3 : Short stature |
6.4% |
3/47 |
Current Weight abnormalities |
36.2% |
17/47 |
> P98 : Increased body weight |
25.5% |
12/47 |
< P3 : Decreased body weight |
10.6% |
5/47 |
Current Head circumference abnormalities |
24.4% |
11/45 |
< P3 : Microcephaly |
17.8% |
8/45 |
> P98 : Macrocephaly |
6.7% |
3/45 |
Neurology |
|
|
Neurological abnormalities |
95.7% |
45/47 |
Global developmental delay |
93.6% |
44/47 |
Generalized hypotonia |
48.9% |
23/47 |
Seizures |
8.5% |
4/47 |
Generalized tonic-clonic seizures |
6.4% |
3/47 |
Absent speech |
4.3% |
2/47 |
Developmental regression |
4.3% |
2/47 |
Gait disturbance |
4.3% |
2/47 |
Infantile muscular hypotonia |
4.3% |
2/47 |
Infantile axial hypotonia |
4.3% |
2/47 |
Intellectual disability, borderline |
4.3% |
2/47 |
Severe muscular hypotonia |
4.3% |
2/47 |
Speech apraxia |
4.3% |
2/47 |
Abnormality of the cerebellum |
2.1% |
1/47 |
Abnormal emotion/affect behavior |
2.1% |
1/47 |
Absence seizures |
2.1% |
1/47 |
Arachnoid cyst |
2.1% |
1/47 |
Atonic seizures |
2.1% |
1/47 |
Facial hypotonia |
2.1% |
1/47 |
Focal seizures with impairment of consciousness or awareness |
2.1% |
1/47 |
Focal seizures |
2.1% |
1/47 |
Generalized myoclonic seizures |
2.1% |
1/47 |
Impaired pain sensation |
2.1% |
1/47 |
Intellectual disability, profound |
2.1% |
1/47 |
Myoclonic atonic seizures |
2.1% |
1/47 |
Photomyoclonic seizures |
2.1% |
1/47 |
Poor motor coordination |
2.1% |
1/47 |
Poor hand-eye coordination |
2.1% |
1/47 |
Scanning speech |
2.1% |
1/47 |
Torticollis |
2.1% |
1/47 |
Behavioral problems |
80.4% |
37/46 |
Sleep disturbance |
28.3% |
13/46 |
Autism |
21.7% |
10/46 |
Anxiety |
19.6% |
9/46 |
Impaired social interactions |
19.6% |
9/46 |
Abnormal emotion/affect behavior |
13.0% |
6/46 |
Attention deficit hyperactivity disorder |
10.9% |
5/46 |
Autistic behavior |
10.9% |
5/46 |
Hyperactivity |
10.9% |
5/46 |
Short attention span |
10.9% |
5/46 |
Aggressive behavior |
8.7% |
4/46 |
Polyphagia |
6.5% |
3/46 |
Personality disorder |
4.3% |
2/46 |
Poor eye contact |
4.3% |
2/46 |
Self-injurious behavior |
4.3% |
2/46 |
Stereotypic behavior |
4.3% |
2/46 |
Abnormal eating behavior |
2.2% |
1/46 |
Abnormal aggressive, impulsive or violent behavior |
2.2% |
1/46 |
Abnormal fear/anxiety-related behavior |
2.2% |
1/46 |
Global developmental delay |
2.2% |
1/46 |
Head-banging |
2.2% |
1/46 |
Inappropriate behavior |
2.2% |
1/46 |
Motor tics |
2.2% |
1/46 |
Oppositional defiant disorder |
2.2% |
1/46 |
Recurrent hand flapping |
2.2% |
1/46 |
Skin-picking |
2.2% |
1/46 |
Sleep-wake cycle disturbance |
2.2% |
1/46 |
Stereotypical hand wringing |
2.2% |
1/46 |
Brain abnormality |
37.8% |
14/37 |
Choroid plexus cyst |
5.4% |
2/37 |
Dilation of lateral ventricles |
5.4% |
2/37 |
Syringomyelia |
5.4% |
2/37 |
Ventriculomegaly |
5.4% |
2/37 |
Abnormality of the cerebral cortex |
2.7% |
1/37 |
Abnormality of the corpus callosum |
2.7% |
1/37 |
Abnormal cortical gyration |
2.7% |
1/37 |
Abnormality of the arachnoid mater |
2.7% |
1/37 |
Anterior hypopituitarism |
2.7% |
1/37 |
Aplasia/Hypoplasia of the brainstem |
2.7% |
1/37 |
Arnold-Chiari malformation |
2.7% |
1/37 |
Asymmetric ventricles |
2.7% |
1/37 |
Cerebral white matter atrophy |
2.7% |
1/37 |
Cortical dysplasia |
2.7% |
1/37 |
Enlarged cerebellum |
2.7% |
1/37 |
Hydrocephalus |
2.7% |
1/37 |
Limbic malformations |
2.7% |
1/37 |
Morphological abnormality of the central nervous system |
2.7% |
1/37 |
Periventricular cysts |
2.7% |
1/37 |
Facial abnormalities |
|
|
Abnormality of the ear |
40.9% |
18/44 |
Macrotia |
18.2% |
8/44 |
Low-set ears |
11.4% |
5/44 |
Protruding ear |
6.8% |
3/44 |
Uplifted earlobe |
4.5% |
2/44 |
Abnormality of the pinna |
2.3% |
1/44 |
Abnormality of the antihelix |
2.3% |
1/44 |
Anterior creases of earlobe |
2.3% |
1/44 |
Anteverted ears |
2.3% |
1/44 |
Attached earlobe |
2.3% |
1/44 |
Cupped ear |
2.3% |
1/44 |
Horizontal crus of helix |
2.3% |
1/44 |
Low-set, posteriorly rotated ears |
2.3% |
1/44 |
Microtia |
2.3% |
1/44 |
Posteriorly rotated ears |
2.3% |
1/44 |
Prominent ear helix |
2.3% |
1/44 |
Prominent tragus |
2.3% |
1/44 |
Abnormality of the eye |
82.2% |
37/45 |
Long eyelashes |
24.4% |
11/45 |
Long palpebral fissure |
20.0% |
9/45 |
Epicanthus |
17.8% |
8/45 |
Highly arched eyebrow |
13.3% |
6/45 |
Thick eyebrow |
13.3% |
6/45 |
Downslanted palpebral fissures |
11.1% |
5/45 |
Hypertelorism |
11.1% |
5/45 |
Upslanted palpebral fissure |
11.1% |
5/45 |
Deeply set eye |
8.9% |
4/45 |
Hypotelorism |
6.7% |
3/45 |
Small palpebral fissure |
6.7% |
3/45 |
Abnormality of the eyelid |
4.4% |
2/45 |
Broad eyebrow |
4.4% |
2/45 |
Laterally curved eyebrow |
4.4% |
2/45 |
Sparse eyebrow |
4.4% |
2/45 |
Abnormal eye morphology |
2.2% |
1/45 |
Abnormality of retinal pigmentation |
2.2% |
1/45 |
Bilateral ptosis |
2.2% |
1/45 |
Blepharochalasis |
2.2% |
1/45 |
Blue irides |
2.2% |
1/45 |
Epicanthus inversus |
2.2% |
1/45 |
Horizontal eyebrow |
2.2% |
1/45 |
Large eyes |
2.2% |
1/45 |
Medial flaring of the eyebrow |
2.2% |
1/45 |
Nasolacrimal duct obstruction |
2.2% |
1/45 |
Periorbital fullness |
2.2% |
1/45 |
Prominent eyelashes |
2.2% |
1/45 |
Proptosis |
2.2% |
1/45 |
Short palpebral fissure |
2.2% |
1/45 |
Synophrys |
2.2% |
1/45 |
Unilateral ptosis |
2.2% |
1/45 |
Abnormality of the nose |
42.2% |
19/45 |
Wide nasal bridge |
15.6% |
7/45 |
Bulbous nose |
8.9% |
4/45 |
Underdeveloped nasal alae |
8.9% |
4/45 |
Anteverted nares |
6.7% |
3/45 |
Depressed nasal bridge |
4.4% |
2/45 |
Prominent nasal bridge |
4.4% |
2/45 |
Abnormality of the nasal dorsum |
2.2% |
1/45 |
Broad nasal tip |
2.2% |
1/45 |
Depressed nasal ridge |
2.2% |
1/45 |
Flared nostrils |
2.2% |
1/45 |
Large beaked nose |
2.2% |
1/45 |
Long nose |
2.2% |
1/45 |
Low hanging columella |
2.2% |
1/45 |
Prominent nose |
2.2% |
1/45 |
Prominent nasal tip |
2.2% |
1/45 |
Short nose |
2.2% |
1/45 |
Wide nose |
2.2% |
1/45 |
Abnormality of the mouth |
68.2% |
30/44 |
Thin upper lip vermilion |
36.4% |
16/44 |
Exaggerated cupid's bow |
22.7% |
10/44 |
Smooth philtrum |
18.2% |
8/44 |
Broad philtrum |
9.1% |
4/44 |
Thick lower lip vermilion |
9.1% |
4/44 |
Everted lower lip vermilion |
6.8% |
3/44 |
Narrow mouth |
6.8% |
3/44 |
Short philtrum |
6.8% |
3/44 |
Tented upper lip vermilion |
6.8% |
3/44 |
Thick upper lip vermilion |
6.8% |
3/44 |
Bifid uvula |
4.5% |
2/44 |
Incisor macrodontia |
4.5% |
2/44 |
Long philtrum |
4.5% |
2/44 |
Microretrognathia |
4.5% |
2/44 |
Wide mouth |
4.5% |
2/44 |
Alveolar ridge cleft |
2.3% |
1/44 |
Ankyloglossia |
2.3% |
1/44 |
Bilateral cleft lip |
2.3% |
1/44 |
Cleft palate |
2.3% |
1/44 |
Dental malocclusion |
2.3% |
1/44 |
Downturned corners of mouth |
2.3% |
1/44 |
High palate |
2.3% |
1/44 |
Micrognathia |
2.3% |
1/44 |
Misalignment of incisors |
2.3% |
1/44 |
Narrow palate |
2.3% |
1/44 |
Short uvula |
2.3% |
1/44 |
Submucous cleft soft palate |
2.3% |
1/44 |
Supernumerary maxillary incisor |
2.3% |
1/44 |
Visual and hearing impairments |
|
|
Abnormal hearing |
7.0% |
3/43 |
Bilateral sensorineural hearing impairment |
2.3% |
1/43 |
Low-frequency hearing loss |
2.3% |
1/43 |
Progressive conductive hearing impairment |
2.3% |
1/43 |
Abnormal vision |
48.8% |
21/43 |
Strabismus |
30.2% |
13/43 |
Hypermetropia |
9.3% |
4/43 |
Alternating esotropia |
4.7% |
2/43 |
Abnormality of eye movement |
2.3% |
1/43 |
Abnormality of retinal pigmentation |
2.3% |
1/43 |
Abnormal conjugate eye movement |
2.3% |
1/43 |
Amblyopia |
2.3% |
1/43 |
Cortical visual impairment |
2.3% |
1/43 |
Deeply set eye |
2.3% |
1/43 |
Duane anomaly |
2.3% |
1/43 |
Nystagmus |
2.3% |
1/43 |
Optic nerve hypoplasia |
2.3% |
1/43 |
Severe Myopia |
2.3% |
1/43 |
Heart |
|
|
Abnormality of the heart |
9.3% |
4/43 |
Aortic aneurysm |
2.3% |
1/43 |
Atria septal defect |
2.3% |
1/43 |
Cardiomyopathy |
2.3% |
1/43 |
Left ventricular hypertrophy |
2.3% |
1/43 |
Secundum atrial septal defect |
2.3% |
1/43 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
47.7% |
21/44 |
Constipation |
20.5% |
9/44 |
Feeding difficulties |
18.2% |
8/44 |
Gastroesophageal reflux |
13.6% |
6/44 |
Vomiting |
6.8% |
3/44 |
Episodic vomiting |
4.5% |
2/44 |
Nasogastric tube feeding in infancy |
4.5% |
2/44 |
Esophagitis |
2.3% |
1/44 |
Feeding difficulties in infancy |
2.3% |
1/44 |
Gastrostomy tube feeding in infancy |
2.3% |
1/44 |
Polyphagia |
2.3% |
1/44 |
Urogenital |
|
|
Abnormality of the urogenital system |
15.9% |
7/44 |
Cryptorchidism |
4.5% |
2/44 |
Hydronephrosis |
4.5% |
2/44 |
Coronal hypospadias |
2.3% |
1/44 |
Dilatation of the renal pelvis |
2.3% |
1/44 |
Enuresis |
2.3% |
1/44 |
Inguinal hernia |
2.3% |
1/44 |
Macroorchidism |
2.3% |
1/44 |
Polyhydramnios |
2.3% |
1/44 |
Unilateral cryptorchidism |
2.3% |
1/44 |
Urinary retention |
2.3% |
1/44 |
Skeleton |
|
|
Skeletal abnormalities |
69.8% |
30/43 |
Brachydactyly syndrome |
14.0% |
6/43 |
Tapered finger |
14.0% |
6/43 |
Clinodactyly of the 5th finger |
11.6% |
5/43 |
Plagiocephaly |
11.6% |
5/43 |
Sandal gap |
11.6% |
5/43 |
Brachycephaly |
9.3% |
4/43 |
Increased laxity of fingers |
9.3% |
4/43 |
Joint laxity |
9.3% |
4/43 |
Pes planus |
9.3% |
4/43 |
Broad foot |
7.0% |
3/43 |
Broad hallux |
7.0% |
3/43 |
Hyperextensibility at elbow |
7.0% |
3/43 |
Short palm |
7.0% |
3/43 |
Clinodactyly |
4.7% |
2/43 |
Excessive femoral anteversion |
4.7% |
2/43 |
Genu valgum |
4.7% |
2/43 |
Joint hypermobility |
4.7% |
2/43 |
Osteopenia |
4.7% |
2/43 |
Pectus excavatum of inferior sternum |
4.7% |
2/43 |
Reduced bone mineral density |
4.7% |
2/43 |
Short foot |
4.7% |
2/43 |
Small hand |
4.7% |
2/43 |
Tibial torsion |
4.7% |
2/43 |
Abnormality of calvarial morphology |
2.3% |
1/43 |
Abnormality of epiphysis morphology |
2.3% |
1/43 |
Abnormality of the metopic suture |
2.3% |
1/43 |
Aplasia/Hypoplasia of the distal phalanges of the toes |
2.3% |
1/43 |
Aplasia/Hypoplasia of the mandible |
2.3% |
1/43 |
Aplasia/Hypoplasia of the 3rd toe |
2.3% |
1/43 |
Arachnodactyly |
2.3% |
1/43 |
Broad distal phalanges of all fingers |
2.3% |
1/43 |
Broad finger |
2.3% |
1/43 |
Broad thumb |
2.3% |
1/43 |
Clinodactyly of the 3rd toe |
2.3% |
1/43 |
Clinodactyly of the 4th toe |
2.3% |
1/43 |
Clinodactyly of the 5th toe |
2.3% |
1/43 |
Cone-shaped epiphyses of the phalanges of the hand |
2.3% |
1/43 |
Coxa vara |
2.3% |
1/43 |
Craniosynostosis |
2.3% |
1/43 |
Cubitus valgus |
2.3% |
1/43 |
Enlarged epiphyses of the hallux |
2.3% |
1/43 |
Flat occiput |
2.3% |
1/43 |
Hypoplastic ilia |
2.3% |
1/43 |
Joint contracture of the 5th finger |
2.3% |
1/43 |
Metatarsus adductus |
2.3% |
1/43 |
Metopic synostosis |
2.3% |
1/43 |
Microcephaly |
2.3% |
1/43 |
Micrognathia |
2.3% |
1/43 |
Narrow chest |
2.3% |
1/43 |
Patellar subluxation |
2.3% |
1/43 |
Polysyndactyly of hallux |
2.3% |
1/43 |
Positional foot deformity |
2.3% |
1/43 |
Postaxial polysyndactyly of foot |
2.3% |
1/43 |
Postaxial hand polydactyly |
2.3% |
1/43 |
Recurrent fractures |
2.3% |
1/43 |
Retrognathia |
2.3% |
1/43 |
Sagittal craniosynostosis |
2.3% |
1/43 |
Sclerotic radial epiphyses |
2.3% |
1/43 |
Scoliosis |
2.3% |
1/43 |
Short metatarsal |
2.3% |
1/43 |
Short middle phalanx of the 5th finger |
2.3% |
1/43 |
Short finger |
2.3% |
1/43 |
Short middle phalanx of the 2nd finger |
2.3% |
1/43 |
Short toe |
2.3% |
1/43 |
Skull asymmetry |
2.3% |
1/43 |
Slender long bone |
2.3% |
1/43 |
Slender finger |
2.3% |
1/43 |
Small epiphyses of the distal phalanges of the hand |
2.3% |
1/43 |
Small epiphyses |
2.3% |
1/43 |
Structural foot deformity |
2.3% |
1/43 |
Thoracolumbar scoliosis |
2.3% |
1/43 |
Trigonocephaly |
2.3% |
1/43 |
2-3 toe syndactyly |
2.3% |
1/43 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
52.3% |
23/44 |
Prominent fingertip pads |
13.6% |
6/44 |
Eczema |
9.1% |
4/44 |
Single transverse palmar crease |
6.8% |
3/44 |
Deep palmar crease |
4.5% |
2/44 |
Hyperconvex nail |
4.5% |
2/44 |
Multiple cafe-au-lait spots |
4.5% |
2/44 |
Soft skin |
4.5% |
2/44 |
Sparse hair |
4.5% |
2/44 |
Abnormality of the palmar creases |
2.3% |
1/44 |
Axillary freckling |
2.3% |
1/44 |
Cutis laxa |
2.3% |
1/44 |
Deep longitudinal plantar crease |
2.3% |
1/44 |
Deep plantar creases |
2.3% |
1/44 |
Dry skin |
2.3% |
1/44 |
Fragile skin |
2.3% |
1/44 |
Generalized hypertrichosis |
2.3% |
1/44 |
Hemangioma |
2.3% |
1/44 |
Hirsutism |
2.3% |
1/44 |
Hyperhidrosis |
2.3% |
1/44 |
Hypertrichosis |
2.3% |
1/44 |
Hypoplastic toenails |
2.3% |
1/44 |
Hypoplastic fingernail |
2.3% |
1/44 |
Hypopigmentation of the skin |
2.3% |
1/44 |
Hypoplastic fifth toenail |
2.3% |
1/44 |
Ingrown nail |
2.3% |
1/44 |
Inguinal freckling |
2.3% |
1/44 |
Localized hirsutism |
2.3% |
1/44 |
Periauricular skin pits |
2.3% |
1/44 |
Skin pit |
2.3% |
1/44 |
Small nail |
2.3% |
1/44 |
Striae distensae |
2.3% |
1/44 |
Thin nail |
2.3% |
1/44 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
2.3% |
1/44 |
Diabetes mellitus |
2.3% |
1/44 |
Abnormality of the immune system |
25.0% |
11/44 |
Recurrent otitis media |
11.4% |
5/44 |
Recurrent respiratory infections |
6.8% |
3/44 |
Recurrent infections |
6.8% |
3/44 |
Recurrent upper respiratory tract infections |
4.5% |
2/44 |
Recurrent pharyngitis |
2.3% |
1/44 |
Recurrent urinary tract infections |
2.3% |
1/44 |
Recurrent sinusitis |
2.3% |
1/44 |