SRCAP
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.6% | 20/36 |
| Female | 44.4% | 16/36 |
| Indifferent | 0% | 0/36 |
| Unknown | 0% | 0/36 |
| General | ||
| Birth Length abnormalities | 0% | 0/36 |
| Birth Weight abnormalities | 11.1% | 4/36 |
| < P3 : Small for gestational age | 8.3% | 3/36 |
| > P98 : Large for gestational age | 2.8% | 1/36 |
| Birth Head circumference abnormalities | 2.8% | 1/36 |
| < P3 : Primary microcephaly | 2.8% | 1/36 |
| Current Height abnormalities | 5.6% | 2/36 |
| > P98 : Tall stature | 5.6% | 2/36 |
| Current Weight abnormalities | 16.7% | 6/36 |
| > P98 : Increased body weight | 5.6% | 2/36 |
| < P3 : Decreased body weight | 11.1% | 4/36 |
| Current Head circumference abnormalities | 8.3% | 3/36 |
| < P3 : Microcephaly | 2.8% | 1/36 |
| > P98 : Macrocephaly | 5.6% | 2/36 |
| Neurology | ||
| Neurological abnormalities | 63.6% | 21/33 |
| Hypotonia | 45.5% | 15/33 |
| Seizure | 9.1% | 3/33 |
| Abnormal muscle tone | 6.1% | 2/33 |
| Abnormality of coordination | 3.0% | 1/33 |
| Hypertonia | 3.0% | 1/33 |
| Infantile spasms | 3.0% | 1/33 |
| Intellectual disability | 3.0% | 1/33 |
| Severe muscular hypotonia | 3.0% | 1/33 |
| Torticollis | 3.0% | 1/33 |
| Behavioral problems | 84.8% | 28/33 |
| Autism | 36.4% | 12/33 |
| Attention deficit hyperactivity disorder | 27.3% | 9/33 |
| Anxiety | 21.2% | 7/33 |
| Aggressive behavior | 15.2% | 5/33 |
| Tics | 12.1% | 4/33 |
| Irritability | 9.1% | 3/33 |
| Psychosis | 9.1% | 3/33 |
| Short attention span | 9.1% | 3/33 |
| Sleep disturbance | 9.1% | 3/33 |
| Specific learning disability | 9.1% | 3/33 |
| Depression | 6.1% | 2/33 |
| Low frustration tolerance | 6.1% | 2/33 |
| Abnormal social behavior | 3.0% | 1/33 |
| Atypical behavior | 3.0% | 1/33 |
| Autism with high cognitive abilities | 3.0% | 1/33 |
| Autistic behavior | 3.0% | 1/33 |
| Bipolar affective disorder | 3.0% | 1/33 |
| Diminished movement | 3.0% | 1/33 |
| Dyscalculia | 3.0% | 1/33 |
| Emotional lability | 3.0% | 1/33 |
| Motor stereotypy | 3.0% | 1/33 |
| Mutism | 3.0% | 1/33 |
| Nasal dysarthria | 3.0% | 1/33 |
| obsolete Mood swings | 3.0% | 1/33 |
| Oppositional defiant disorder | 3.0% | 1/33 |
| Oral aversion | 3.0% | 1/33 |
| Schizophrenia | 3.0% | 1/33 |
| Self-injurious behavior | 3.0% | 1/33 |
| Brain abnormality | 46.7% | 7/15 |
| Abnormal cerebellar vermis morphology | 13.3% | 2/15 |
| Abnormal myelination | 6.7% | 1/15 |
| Abnormal brain morphology | 6.7% | 1/15 |
| Abnormal corpus callosum morphology | 6.7% | 1/15 |
| Cerebellar dysplasia | 6.7% | 1/15 |
| Global brain atrophy | 6.7% | 1/15 |
| Hypoplasia of the brainstem | 6.7% | 1/15 |
| Molar tooth sign on MRI | 6.7% | 1/15 |
| Pachygyria | 6.7% | 1/15 |
| Pineal cyst | 6.7% | 1/15 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 9/36 |
| Low-set ears | 11.1% | 4/36 |
| Posteriorly rotated ears | 5.6% | 2/36 |
| Abnormality of the outer ear | 2.8% | 1/36 |
| Abnormal tragus morphology | 2.8% | 1/36 |
| Large earlobe | 2.8% | 1/36 |
| Preauricular skin tag | 2.8% | 1/36 |
| Protruding ear | 2.8% | 1/36 |
| Small earlobe | 2.8% | 1/36 |
| Abnormality of the eye | 72.2% | 26/36 |
| Downslanted palpebral fissures | 19.4% | 7/36 |
| Epicanthus | 19.4% | 7/36 |
| Hypertelorism | 16.7% | 6/36 |
| Deeply set eye | 11.1% | 4/36 |
| Long palpebral fissure | 5.6% | 2/36 |
| Narrow palpebral fissure | 5.6% | 2/36 |
| Periorbital fullness | 5.6% | 2/36 |
| Ptosis | 5.6% | 2/36 |
| Upslanted palpebral fissure | 5.6% | 2/36 |
| Bilateral ptosis | 2.8% | 1/36 |
| Blue sclerae | 2.8% | 1/36 |
| Infra-orbital crease | 2.8% | 1/36 |
| Proptosis | 2.8% | 1/36 |
| Telecanthus | 2.8% | 1/36 |
| Unilateral ptosis | 2.8% | 1/36 |
| Upper eyelid edema | 2.8% | 1/36 |
| Abnormality of the nose | 44.4% | 16/36 |
| Long nose | 11.1% | 4/36 |
| Bulbous nose | 8.3% | 3/36 |
| Wide nose | 8.3% | 3/36 |
| Low hanging columella | 5.6% | 2/36 |
| Narrow nose | 5.6% | 2/36 |
| Proboscis | 5.6% | 2/36 |
| Wide nasal bridge | 5.6% | 2/36 |
| Anteverted nares | 2.8% | 1/36 |
| Broad nasal tip | 2.8% | 1/36 |
| Depressed nasal bridge | 2.8% | 1/36 |
| Narrow nasal bridge | 2.8% | 1/36 |
| obsolete Large beaked nose | 2.8% | 1/36 |
| Prominent nasal tip | 2.8% | 1/36 |
| Prominent nasal bridge | 2.8% | 1/36 |
| Short columella | 2.8% | 1/36 |
| Abnormality of the mouth | 69.4% | 25/36 |
| High palate | 22.2% | 8/36 |
| Mandibular prognathia | 11.1% | 4/36 |
| Thin upper lip vermilion | 11.1% | 4/36 |
| Thick vermilion border | 8.3% | 3/36 |
| Wide mouth | 8.3% | 3/36 |
| Ankyloglossia | 5.6% | 2/36 |
| Dental crowding | 5.6% | 2/36 |
| Everted lower lip vermilion | 5.6% | 2/36 |
| Microretrognathia | 5.6% | 2/36 |
| Open mouth | 5.6% | 2/36 |
| Retrognathia | 5.6% | 2/36 |
| Abnormal uvula morphology | 2.8% | 1/36 |
| Amelogenesis imperfecta | 2.8% | 1/36 |
| Bifid tongue | 2.8% | 1/36 |
| Cleft palate | 2.8% | 1/36 |
| Dental malocclusion | 2.8% | 1/36 |
| Lobulated tongue | 2.8% | 1/36 |
| Microdontia | 2.8% | 1/36 |
| Misalignment of incisors | 2.8% | 1/36 |
| Narrow mouth | 2.8% | 1/36 |
| Narrow palate | 2.8% | 1/36 |
| Orofacial cleft | 2.8% | 1/36 |
| Short lingual frenulum | 2.8% | 1/36 |
| Tented upper lip vermilion | 2.8% | 1/36 |
| Thick lower lip vermilion | 2.8% | 1/36 |
| Visual and hearing impairments | ||
| Abnormal hearing | 14.7% | 5/34 |
| Atresia of the external auditory canal | 2.9% | 1/34 |
| Bilateral conductive hearing impairment | 2.9% | 1/34 |
| Bilateral sensorineural hearing impairment | 2.9% | 1/34 |
| Conductive hearing impairment | 2.9% | 1/34 |
| Glue ear | 2.9% | 1/34 |
| Hearing impairment | 2.9% | 1/34 |
| Phonophobia | 2.9% | 1/34 |
| Tinnitus | 2.9% | 1/34 |
| Abnormal vision | 42.9% | 15/35 |
| Myopia | 25.7% | 9/35 |
| Hypermetropia | 8.6% | 3/35 |
| Strabismus | 8.6% | 3/35 |
| Astigmatism | 2.9% | 1/35 |
| Cataract | 2.9% | 1/35 |
| Esotropia | 2.9% | 1/35 |
| Rod-cone dystrophy | 2.9% | 1/35 |
| Heart | ||
| Abnormality of the heart | 17.1% | 6/35 |
| Mitral valve prolapse | 5.7% | 2/35 |
| Dilatation of the sinus of Valsalva | 2.9% | 1/35 |
| Dilated cardiomyopathy | 2.9% | 1/35 |
| Mitral regurgitation | 2.9% | 1/35 |
| Patent ductus arteriosus after birth at term | 2.9% | 1/35 |
| Persistent fetal circulation | 2.9% | 1/35 |
| Pulmonary | ||
| Abnormality of the lungs | 33.3% | 1/3 |
| Sinusitis | 33.3% | 1/3 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 17.1% | 6/35 |
| Gastroesophageal reflux | 11.4% | 4/35 |
| Chronic colitis | 2.9% | 1/35 |
| Chronic diarrhea | 2.9% | 1/35 |
| Chronic constipation | 2.9% | 1/35 |
| Constipation | 2.9% | 1/35 |
| Vomiting | 2.9% | 1/35 |
| Urogenital | ||
| Abnormality of the urogenital system | 17.1% | 6/35 |
| Cryptorchidism | 2.9% | 1/35 |
| Glanular hypospadias | 2.9% | 1/35 |
| Hydronephrosis | 2.9% | 1/35 |
| Hydroureter | 2.9% | 1/35 |
| Irregular menstruation | 2.9% | 1/35 |
| Menorrhagia | 2.9% | 1/35 |
| Micropenis | 2.9% | 1/35 |
| Neurogenic bladder | 2.9% | 1/35 |
| Urinary urgency | 2.9% | 1/35 |
| Urinary incontinence | 2.9% | 1/35 |
| Skeleton | ||
| Skeletal abnormalities | 68.6% | 24/35 |
| Joint hypermobility | 25.7% | 9/35 |
| Pectus excavatum | 14.3% | 5/35 |
| Arachnodactyly | 8.6% | 3/35 |
| Scoliosis | 8.6% | 3/35 |
| Arthralgia | 5.7% | 2/35 |
| Elbow flexion contracture | 5.7% | 2/35 |
| Long toe | 5.7% | 2/35 |
| Long fingers | 5.7% | 2/35 |
| Pectus carinatum | 5.7% | 2/35 |
| Sandal gap | 5.7% | 2/35 |
| Abnormal thorax morphology | 2.9% | 1/35 |
| Abnormal sternum morphology | 2.9% | 1/35 |
| Abnormality of the knee | 2.9% | 1/35 |
| Abnormal hip joint morphology | 2.9% | 1/35 |
| Abnormal shoulder morphology | 2.9% | 1/35 |
| Abnormal joint morphology | 2.9% | 1/35 |
| Accelerated skeletal maturation | 2.9% | 1/35 |
| Back pain | 2.9% | 1/35 |
| Broad thumb | 2.9% | 1/35 |
| Clinodactyly | 2.9% | 1/35 |
| Clinodactyly of the 5th finger | 2.9% | 1/35 |
| Congenital hip dislocation | 2.9% | 1/35 |
| Equinus calcaneus | 2.9% | 1/35 |
| Hip dysplasia | 2.9% | 1/35 |
| Intervertebral disk degeneration | 2.9% | 1/35 |
| Kyphoscoliosis | 2.9% | 1/35 |
| Long foot | 2.9% | 1/35 |
| Lower limb pain | 2.9% | 1/35 |
| Osteomalacia | 2.9% | 1/35 |
| Overlapping toe | 2.9% | 1/35 |
| Pes planus | 2.9% | 1/35 |
| Preaxial hand polydactyly | 2.9% | 1/35 |
| Recurrent long bone fractures | 2.9% | 1/35 |
| Slender toe | 2.9% | 1/35 |
| Slender build | 2.9% | 1/35 |
| Slender finger | 2.9% | 1/35 |
| Talipes equinovarus | 2.9% | 1/35 |
| Tapered finger | 2.9% | 1/35 |
| Type C brachydactyly | 2.9% | 1/35 |
| 2-3 toe syndactyly | 2.9% | 1/35 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 34.3% | 12/35 |
| Prominent fingertip pads | 8.6% | 3/35 |
| Few cafe-au-lait spots | 5.7% | 2/35 |
| Abnormal hair whorl | 2.9% | 1/35 |
| Abnormal nail morphology | 2.9% | 1/35 |
| Cafe-au-lait spot | 2.9% | 1/35 |
| Camptodactyly | 2.9% | 1/35 |
| Dry skin | 2.9% | 1/35 |
| Facial erythema | 2.9% | 1/35 |
| Hemangioma | 2.9% | 1/35 |
| Hypertrichosis | 2.9% | 1/35 |
| Localized skin lesion | 2.9% | 1/35 |
| obsolete Sparse and thin eyebrow | 2.9% | 1/35 |
| Onychogryphosis of toenails | 2.9% | 1/35 |
| Paronychia | 2.9% | 1/35 |
| Sacral dimple | 2.9% | 1/35 |
| Soft skin | 2.9% | 1/35 |
| Sparse hair | 2.9% | 1/35 |
| Webbed neck | 2.9% | 1/35 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 11.4% | 4/35 |
| Decreased circulating vitamin B12 concentration | 2.9% | 1/35 |
| Hyperthyroidism | 2.9% | 1/35 |
| Hypogonadotropic hypogonadism | 2.9% | 1/35 |
| Hypothyroidism | 2.9% | 1/35 |
| Abnormality of the immune system | 5.7% | 2/35 |
| Recurrent urinary tract infections | 5.7% | 2/35 |
| Chronic otitis media | 2.9% | 1/35 |
| Recurrent bronchitis | 2.9% | 1/35 |