SRCAP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 54.5% | 18/33 |
| Female | 45.5% | 15/33 |
| Indifferent | 0% | 0/33 |
| Unknown | 0% | 0/33 |
| General | ||
| Birth Length abnormalities | 0% | 0/33 |
| Birth Weight abnormalities | 12.1% | 4/33 |
| < P3 : Small for gestational age | 9.1% | 3/33 |
| > P98 : Large for gestational age | 3.0% | 1/33 |
| Birth Head circumference abnormalities | 0% | 0/33 |
| Current Height abnormalities | 6.1% | 2/33 |
| > P98 : Tall stature | 6.1% | 2/33 |
| Current Weight abnormalities | 15.2% | 5/33 |
| > P98 : Increased body weight | 6.1% | 2/33 |
| < P3 : Decreased body weight | 9.1% | 3/33 |
| Current Head circumference abnormalities | 9.1% | 3/33 |
| < P3 : Microcephaly | 3.0% | 1/33 |
| > P98 : Macrocephaly | 6.1% | 2/33 |
| Neurology | ||
| Neurological abnormalities | 64.5% | 20/31 |
| Muscular hypotonia | 48.4% | 15/31 |
| Seizures | 9.7% | 3/31 |
| Abnormal muscle tone | 6.5% | 2/31 |
| Abnormality of coordination | 3.2% | 1/31 |
| Hypertonia | 3.2% | 1/31 |
| Infantile spasms | 3.2% | 1/31 |
| Severe muscular hypotonia | 3.2% | 1/31 |
| Torticollis | 3.2% | 1/31 |
| Behavioral problems | 83.3% | 25/30 |
| Autism | 36.7% | 11/30 |
| Attention deficit hyperactivity disorder | 30.0% | 9/30 |
| Anxiety | 23.3% | 7/30 |
| Aggressive behavior | 16.7% | 5/30 |
| Tics | 13.3% | 4/30 |
| Irritability | 10.0% | 3/30 |
| Psychosis | 10.0% | 3/30 |
| Short attention span | 10.0% | 3/30 |
| Sleep disturbance | 10.0% | 3/30 |
| Specific learning disability | 10.0% | 3/30 |
| Depression | 6.7% | 2/30 |
| Low frustration tolerance | 6.7% | 2/30 |
| Abnormal social behavior | 3.3% | 1/30 |
| Autism with high cognitive abilities | 3.3% | 1/30 |
| Behavioral abnormality | 3.3% | 1/30 |
| Diminished movement | 3.3% | 1/30 |
| Dyscalculia | 3.3% | 1/30 |
| Emotional lability | 3.3% | 1/30 |
| Mood swings | 3.3% | 1/30 |
| Mutism | 3.3% | 1/30 |
| Nasal, dysarthic speech | 3.3% | 1/30 |
| Oppositional defiant disorder | 3.3% | 1/30 |
| Oral aversion | 3.3% | 1/30 |
| Schizophrenia | 3.3% | 1/30 |
| Self-injurious behavior | 3.3% | 1/30 |
| Stereotypic behavior | 3.3% | 1/30 |
| Brain abnormality | 46.2% | 6/13 |
| Abnormality of the cerebellar vermis | 15.4% | 2/13 |
| Abnormality of the corpus callosum | 7.7% | 1/13 |
| Abnormality of brain morphology | 7.7% | 1/13 |
| Abnormal myelination | 7.7% | 1/13 |
| Cerebellar dysplasia | 7.7% | 1/13 |
| Hypoplasia of the brainstem | 7.7% | 1/13 |
| Molar tooth sign on MRI | 7.7% | 1/13 |
| Pachygyria | 7.7% | 1/13 |
| Pineal cyst | 7.7% | 1/13 |
| Facial abnormalities | ||
| Abnormality of the ear | 21.2% | 7/33 |
| Low-set ears | 12.1% | 4/33 |
| Abnormality of the tragus | 3.0% | 1/33 |
| Large earlobe | 3.0% | 1/33 |
| Posteriorly rotated ears | 3.0% | 1/33 |
| Preauricular skin tag | 3.0% | 1/33 |
| Protruding ear | 3.0% | 1/33 |
| Small earlobe | 3.0% | 1/33 |
| Abnormality of the eye | 75.8% | 25/33 |
| Epicanthus | 21.2% | 7/33 |
| Downslanted palpebral fissures | 18.2% | 6/33 |
| Hypertelorism | 18.2% | 6/33 |
| Deeply set eye | 12.1% | 4/33 |
| Long palpebral fissure | 6.1% | 2/33 |
| Periorbital fullness | 6.1% | 2/33 |
| Ptosis | 6.1% | 2/33 |
| Small palpebral fissure | 6.1% | 2/33 |
| Upslanted palpebral fissure | 6.1% | 2/33 |
| Bilateral ptosis | 3.0% | 1/33 |
| Blue sclerae | 3.0% | 1/33 |
| Infra-orbital crease | 3.0% | 1/33 |
| Proptosis | 3.0% | 1/33 |
| Telecanthus | 3.0% | 1/33 |
| Unilateral ptosis | 3.0% | 1/33 |
| Upper eyelid edema | 3.0% | 1/33 |
| Abnormality of the nose | 45.5% | 15/33 |
| Long nose | 12.1% | 4/33 |
| Bulbous nose | 9.1% | 3/33 |
| Low hanging columella | 6.1% | 2/33 |
| Narrow nose | 6.1% | 2/33 |
| Proboscis | 6.1% | 2/33 |
| Wide nose | 6.1% | 2/33 |
| Wide nasal bridge | 6.1% | 2/33 |
| Anteverted nares | 3.0% | 1/33 |
| Broad nasal tip | 3.0% | 1/33 |
| Depressed nasal bridge | 3.0% | 1/33 |
| Large beaked nose | 3.0% | 1/33 |
| Narrow nasal bridge | 3.0% | 1/33 |
| Prominent nasal tip | 3.0% | 1/33 |
| Prominent nasal bridge | 3.0% | 1/33 |
| Short columella | 3.0% | 1/33 |
| Abnormality of the mouth | 75.8% | 25/33 |
| High palate | 24.2% | 8/33 |
| Mandibular prognathia | 12.1% | 4/33 |
| Thin upper lip vermilion | 12.1% | 4/33 |
| Thick vermilion border | 9.1% | 3/33 |
| Wide mouth | 9.1% | 3/33 |
| Ankyloglossia | 6.1% | 2/33 |
| Dental crowding | 6.1% | 2/33 |
| Everted lower lip vermilion | 6.1% | 2/33 |
| Microretrognathia | 6.1% | 2/33 |
| Open mouth | 6.1% | 2/33 |
| Retrognathia | 6.1% | 2/33 |
| Abnormality of the uvula | 3.0% | 1/33 |
| Amelogenesis imperfecta | 3.0% | 1/33 |
| Bifid tongue | 3.0% | 1/33 |
| Cleft palate | 3.0% | 1/33 |
| Dental malocclusion | 3.0% | 1/33 |
| Lobulated tongue | 3.0% | 1/33 |
| Microdontia | 3.0% | 1/33 |
| Misalignment of incisors | 3.0% | 1/33 |
| Narrow mouth | 3.0% | 1/33 |
| Narrow palate | 3.0% | 1/33 |
| Oral cleft | 3.0% | 1/33 |
| Short lingual frenulum | 3.0% | 1/33 |
| Tented upper lip vermilion | 3.0% | 1/33 |
| Thick lower lip vermilion | 3.0% | 1/33 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.9% | 4/31 |
| Atresia of the external auditory canal | 3.2% | 1/31 |
| Bilateral sensorineural hearing impairment | 3.2% | 1/31 |
| Bilateral conductive hearing impairment | 3.2% | 1/31 |
| Conductive hearing impairment | 3.2% | 1/31 |
| Glue ear | 3.2% | 1/31 |
| Hearing impairment | 3.2% | 1/31 |
| Phonophobia | 3.2% | 1/31 |
| Abnormal vision | 46.9% | 15/32 |
| Myopia | 28.1% | 9/32 |
| Hypermetropia | 9.4% | 3/32 |
| Strabismus | 9.4% | 3/32 |
| Astigmatism | 3.1% | 1/32 |
| Cataract | 3.1% | 1/32 |
| Esotropia | 3.1% | 1/32 |
| Rod-cone dystrophy | 3.1% | 1/32 |
| Heart | ||
| Abnormality of the heart | 12.1% | 4/33 |
| Dilated cardiomyopathy | 3.0% | 1/33 |
| Mitral regurgitation | 3.0% | 1/33 |
| Patent ductus arteriosus after birth at term | 3.0% | 1/33 |
| Persistent fetal circulation | 3.0% | 1/33 |
| Sinus of Valsalva aneurysm | 3.0% | 1/33 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 18.8% | 6/32 |
| Gastroesophageal reflux | 12.5% | 4/32 |
| Chronic diarrhea | 3.1% | 1/32 |
| Chronic colitis | 3.1% | 1/32 |
| Chronic constipation | 3.1% | 1/32 |
| Constipation | 3.1% | 1/32 |
| Vomiting | 3.1% | 1/32 |
| Urogenital | ||
| Abnormality of the urogenital system | 15.6% | 5/32 |
| Cryptorchidism | 3.1% | 1/32 |
| Glandular hypospadias | 3.1% | 1/32 |
| Hydroureter | 3.1% | 1/32 |
| Hydronephrosis | 3.1% | 1/32 |
| Menorrhagia | 3.1% | 1/32 |
| Menstrual irregularities | 3.1% | 1/32 |
| Micropenis | 3.1% | 1/32 |
| Urinary incontinence | 3.1% | 1/32 |
| Urinary urgency | 3.1% | 1/32 |
| Skeleton | ||
| Skeletal abnormalities | 71.9% | 23/32 |
| Joint hypermobility | 28.1% | 9/32 |
| Pectus excavatum | 15.6% | 5/32 |
| Arachnodactyly | 9.4% | 3/32 |
| Scoliosis | 9.4% | 3/32 |
| Arthralgia | 6.3% | 2/32 |
| Elbow flexion contracture | 6.3% | 2/32 |
| Long toe | 6.3% | 2/32 |
| Long fingers | 6.3% | 2/32 |
| Pectus carinatum | 6.3% | 2/32 |
| Sandal gap | 6.3% | 2/32 |
| Abnormality of the hip joint | 3.1% | 1/32 |
| Abnormality of the sternum | 3.1% | 1/32 |
| Abnormality of the knees | 3.1% | 1/32 |
| Abnormality of the thorax | 3.1% | 1/32 |
| Abnormality of the shoulder | 3.1% | 1/32 |
| Abnormal joint morphology | 3.1% | 1/32 |
| Accelerated skeletal maturation | 3.1% | 1/32 |
| Back pain | 3.1% | 1/32 |
| Broad thumb | 3.1% | 1/32 |
| Clinodactyly of the 5th finger | 3.1% | 1/32 |
| Clinodactyly | 3.1% | 1/32 |
| Congenital hip dislocation | 3.1% | 1/32 |
| Equinus calcaneus | 3.1% | 1/32 |
| Fractures of the long bones | 3.1% | 1/32 |
| Hip dysplasia | 3.1% | 1/32 |
| Intervertebral disc degeneration | 3.1% | 1/32 |
| Kyphoscoliosis | 3.1% | 1/32 |
| Long foot | 3.1% | 1/32 |
| Lower limb pain | 3.1% | 1/32 |
| Osteomalacia | 3.1% | 1/32 |
| Overlapping toe | 3.1% | 1/32 |
| Pes planus | 3.1% | 1/32 |
| Preaxial hand polydactyly | 3.1% | 1/32 |
| Slender build | 3.1% | 1/32 |
| Slender toe | 3.1% | 1/32 |
| Slender finger | 3.1% | 1/32 |
| Talipes equinovarus | 3.1% | 1/32 |
| Tapered finger | 3.1% | 1/32 |
| Type C brachydactyly | 3.1% | 1/32 |
| 2-3 toe syndactyly | 3.1% | 1/32 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 34.4% | 11/32 |
| Prominent fingertip pads | 9.4% | 3/32 |
| Few cafe-au-lait spots | 6.3% | 2/32 |
| Abnormal hair whorl | 3.1% | 1/32 |
| Abnormality of the nail | 3.1% | 1/32 |
| Cafe-au-lait spot | 3.1% | 1/32 |
| Camptodactyly | 3.1% | 1/32 |
| Dry skin | 3.1% | 1/32 |
| Facial erythema | 3.1% | 1/32 |
| Hemangioma | 3.1% | 1/32 |
| Hypertrichosis | 3.1% | 1/32 |
| Localized skin lesion | 3.1% | 1/32 |
| Onychogryposis of toenails | 3.1% | 1/32 |
| Sacral dimple | 3.1% | 1/32 |
| Soft skin | 3.1% | 1/32 |
| Sparse eyebrow | 3.1% | 1/32 |
| Sparse hair | 3.1% | 1/32 |
| Webbed neck | 3.1% | 1/32 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 9.4% | 3/32 |
| Hypogonadotrophic hypogonadism | 3.1% | 1/32 |
| Hypothyroidism | 3.1% | 1/32 |
| Vitamin B12 deficiency | 3.1% | 1/32 |
| Abnormality of the immune system | 6.3% | 2/32 |
| Recurrent urinary tract infections | 6.3% | 2/32 |
| Chronic otitis media | 3.1% | 1/32 |
| Recurrent bronchitis | 3.1% | 1/32 |