SMS
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 17/17 |
| Female | 0% | 0/17 |
| Indifferent | 0% | 0/17 |
| Unknown | 0% | 0/17 |
| General | ||
| Birth Length abnormalities | 17.6% | 3/17 |
| < P3 : Birth length less than 3rd percentile | 11.8% | 2/17 |
| > P98 : Birth length greater than 97th percentile | 5.9% | 1/17 |
| Birth Weight abnormalities | 23.5% | 4/17 |
| < P3 : Small for gestational age | 23.5% | 4/17 |
| Birth Head circumference abnormalities | 11.8% | 2/17 |
| < P3 : Congenital microcephaly | 5.9% | 1/17 |
| > P98 : Macrocephaly at birth | 5.9% | 1/17 |
| Current Height abnormalities | 29.4% | 5/17 |
| < P3 : Short stature | 29.4% | 5/17 |
| Current Weight abnormalities | 29.4% | 5/17 |
| < P3 : Decreased body weight | 29.4% | 5/17 |
| Current Head circumference abnormalities | 11.8% | 2/17 |
| < P3 : Microcephaly | 11.8% | 2/17 |
| Neurology | ||
| Neurological abnormalities | 88.2% | 15/17 |
| Muscular hypotonia | 58.8% | 10/17 |
| Seizures | 35.3% | 6/17 |
| Inability to walk | 23.5% | 4/17 |
| Developmental regression | 17.6% | 3/17 |
| Hypsarrhythmia | 17.6% | 3/17 |
| EEG abnormality | 11.8% | 2/17 |
| EEG with abnormally slow frequencies | 11.8% | 2/17 |
| Generalized myoclonic seizures | 11.8% | 2/17 |
| Generalized seizures | 11.8% | 2/17 |
| Infantile spasms | 11.8% | 2/17 |
| Unsteady gait | 11.8% | 2/17 |
| Absence seizures | 5.9% | 1/17 |
| Broad-based gait | 5.9% | 1/17 |
| Difficulty walking | 5.9% | 1/17 |
| Focal motor seizures | 5.9% | 1/17 |
| Gait disturbance | 5.9% | 1/17 |
| Gait ataxia | 5.9% | 1/17 |
| Generalized tonic-clonic seizures | 5.9% | 1/17 |
| Nystagmus | 5.9% | 1/17 |
| Reduced tendon reflexes | 5.9% | 1/17 |
| Slow pupillary light response | 5.9% | 1/17 |
| Torticollis | 5.9% | 1/17 |
| Behavioral problems | 92.3% | 12/13 |
| Absent speech | 23.1% | 3/13 |
| Abnormality of the voice | 15.4% | 2/13 |
| Echolalia | 15.4% | 2/13 |
| Nasal speech | 15.4% | 2/13 |
| Agitation | 7.7% | 1/13 |
| Drooling | 7.7% | 1/13 |
| Dysarthria | 7.7% | 1/13 |
| Feeding difficulties | 7.7% | 1/13 |
| Hoarse cry | 7.7% | 1/13 |
| Poor suck | 7.7% | 1/13 |
| Sleep disturbance | 7.7% | 1/13 |
| Stereotypic behavior | 7.7% | 1/13 |
| Brain abnormality | 80.0% | 8/10 |
| Abnormality of the corpus callosum | 30.0% | 3/10 |
| Abnormality of the cerebellar vermis | 20.0% | 2/10 |
| Abnormal cortical gyration | 10.0% | 1/10 |
| Abnormality of the cerebral white matter | 10.0% | 1/10 |
| Cerebral cortical atrophy | 10.0% | 1/10 |
| Cerebral calcification | 10.0% | 1/10 |
| Delayed myelination | 10.0% | 1/10 |
| Dilation of lateral ventricles | 10.0% | 1/10 |
| Encephalomalacia | 10.0% | 1/10 |
| Megalencephaly | 10.0% | 1/10 |
| Small pituitary gland | 10.0% | 1/10 |
| Ventriculomegaly | 10.0% | 1/10 |
| Facial abnormalities | ||
| Abnormality of the ear | 70.6% | 12/17 |
| Macrotia | 23.5% | 4/17 |
| Abnormality of the pinna | 17.6% | 3/17 |
| Cupped ear | 17.6% | 3/17 |
| Low-set ears | 11.8% | 2/17 |
| Anteverted ears | 5.9% | 1/17 |
| Hypoplasia of the antihelix | 5.9% | 1/17 |
| Prominent antihelix | 5.9% | 1/17 |
| Protruding ear | 5.9% | 1/17 |
| Small earlobe | 5.9% | 1/17 |
| Abnormality of the eye | 52.9% | 9/17 |
| Downslanted palpebral fissures | 17.6% | 3/17 |
| Hypertelorism | 11.8% | 2/17 |
| Proptosis | 11.8% | 2/17 |
| Short palpebral fissure | 11.8% | 2/17 |
| Slanting of the palpebral fissure | 11.8% | 2/17 |
| Unilateral ptosis | 11.8% | 2/17 |
| Deeply set eye | 5.9% | 1/17 |
| Long palpebral fissure | 5.9% | 1/17 |
| Nystagmus | 5.9% | 1/17 |
| Strabismus | 5.9% | 1/17 |
| Abnormality of the nose | 35.3% | 6/17 |
| Prominent nasal bridge | 23.5% | 4/17 |
| Anteverted nares | 11.8% | 2/17 |
| Bulbous nose | 11.8% | 2/17 |
| Absent nasal septal cartilage | 5.9% | 1/17 |
| Convex nasal ridge | 5.9% | 1/17 |
| Depressed nasal ridge | 5.9% | 1/17 |
| Abnormality of the mouth | 100.0% | 16/16 |
| Thick lower lip vermilion | 62.5% | 10/16 |
| High palate | 43.8% | 7/16 |
| Abnormality of the palate | 37.5% | 6/16 |
| Mandibular prognathia | 25.0% | 4/16 |
| Dental crowding | 18.8% | 3/16 |
| Abnormality of the tongue | 12.5% | 2/16 |
| Micrognathia | 12.5% | 2/16 |
| Narrow mouth | 12.5% | 2/16 |
| Agenesis of permanent teeth | 6.3% | 1/16 |
| Bifid uvula | 6.3% | 1/16 |
| Everted lower lip vermilion | 6.3% | 1/16 |
| Hypoplasia of dental enamel | 6.3% | 1/16 |
| Misalignment of teeth | 6.3% | 1/16 |
| Open mouth | 6.3% | 1/16 |
| Persistence of primary teeth | 6.3% | 1/16 |
| Wide mouth | 6.3% | 1/16 |
| Visual and hearing impairments | ||
| Abnormal hearing | 18.8% | 3/16 |
| Hearing impairment | 6.3% | 1/16 |
| Sensorineural hearing impairment | 6.3% | 1/16 |
| Unilateral deafness | 6.3% | 1/16 |
| Abnormal vision | 40.0% | 6/15 |
| Rod-cone dystrophy | 13.3% | 2/15 |
| Abnormality of retinal pigmentation | 6.7% | 1/15 |
| Cortical visual impairment | 6.7% | 1/15 |
| Myopia | 6.7% | 1/15 |
| Polar cataract | 6.7% | 1/15 |
| Severe Myopia | 6.7% | 1/15 |
| Heart | ||
| Abnormality of the heart | 11.8% | 2/17 |
| Pulmonary hypertension | 11.8% | 2/17 |
| Abnormal heart morphology | 5.9% | 1/17 |
| Bradycardia | 5.9% | 1/17 |
| Persistent left superior vena cava | 5.9% | 1/17 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 23.5% | 4/17 |
| Cholestasis | 11.8% | 2/17 |
| Constipation | 11.8% | 2/17 |
| Abnormality of the liver | 5.9% | 1/17 |
| Abnormal gallbladder morphology | 5.9% | 1/17 |
| Aganglionic megacolon | 5.9% | 1/17 |
| Elevated hepatic transaminases | 5.9% | 1/17 |
| Episodic vomiting | 5.9% | 1/17 |
| Exocrine pancreatic insufficiency | 5.9% | 1/17 |
| Hepatic fibrosis | 5.9% | 1/17 |
| Intestinal malrotation | 5.9% | 1/17 |
| Jaundice | 5.9% | 1/17 |
| Malrotation of small bowel | 5.9% | 1/17 |
| Small intestinal stenosis | 5.9% | 1/17 |
| Urogenital | ||
| Abnormality of the urogenital system | 47.1% | 8/17 |
| Cryptorchidism | 23.5% | 4/17 |
| Hypospadias | 11.8% | 2/17 |
| Nephrocalcinosis | 11.8% | 2/17 |
| Bilateral cryptorchidism | 5.9% | 1/17 |
| Decreased testicular size | 5.9% | 1/17 |
| Ectopic kidney | 5.9% | 1/17 |
| Horseshoe kidney | 5.9% | 1/17 |
| Hydrocele testis | 5.9% | 1/17 |
| Hydronephrosis | 5.9% | 1/17 |
| Hyoplasia of the Leydig cells | 5.9% | 1/17 |
| Hypoplasia of penis | 5.9% | 1/17 |
| Multicystic kidney dysplasia | 5.9% | 1/17 |
| Nephrolithiasis | 5.9% | 1/17 |
| Renal tubular dysfunction | 5.9% | 1/17 |
| Renal duplication | 5.9% | 1/17 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 17/17 |
| Arachnodactyly | 41.2% | 7/17 |
| Slender build | 41.2% | 7/17 |
| Kyphoscoliosis | 35.3% | 6/17 |
| Pectus carinatum | 29.4% | 5/17 |
| Fractures of the long bones | 23.5% | 4/17 |
| Long hallux | 23.5% | 4/17 |
| Long toe | 17.6% | 3/17 |
| Osteoporosis | 17.6% | 3/17 |
| Broad hallux | 11.8% | 2/17 |
| Congenital bilateral hip dislocation | 11.8% | 2/17 |
| Flexion contracture | 11.8% | 2/17 |
| Hyperextensibility of the finger joints | 11.8% | 2/17 |
| Pectus excavatum | 11.8% | 2/17 |
| Slender long bone | 11.8% | 2/17 |
| Thickened calvaria | 11.8% | 2/17 |
| Abnormality of the vertebrae | 5.9% | 1/17 |
| Abnormality of the thorax | 5.9% | 1/17 |
| Bone pain | 5.9% | 1/17 |
| Camptodactyly | 5.9% | 1/17 |
| Camptodactyly of finger | 5.9% | 1/17 |
| Dysplastic sacrum | 5.9% | 1/17 |
| Finger joint hypermobility | 5.9% | 1/17 |
| Hallux valgus | 5.9% | 1/17 |
| Hemiatrophy | 5.9% | 1/17 |
| Kyphosis | 5.9% | 1/17 |
| Limb joint contracture | 5.9% | 1/17 |
| Limb undergrowth | 5.9% | 1/17 |
| Lumbar kyphoscoliosis | 5.9% | 1/17 |
| Multiple joint contractures | 5.9% | 1/17 |
| Osteopenia | 5.9% | 1/17 |
| Platyspondyly | 5.9% | 1/17 |
| Prominent calcaneus | 5.9% | 1/17 |
| Recurrent fractures | 5.9% | 1/17 |
| Scoliosis | 5.9% | 1/17 |
| Short neck | 5.9% | 1/17 |
| Thoracic scoliosis | 5.9% | 1/17 |
| Thoracic kyphoscoliosis | 5.9% | 1/17 |
| Vertebral compression fractures | 5.9% | 1/17 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 47.1% | 8/17 |
| Abnormality of the eyebrow | 11.8% | 2/17 |
| Abnormal hair whorl | 11.8% | 2/17 |
| Hypoplastic toenails | 11.8% | 2/17 |
| Low anterior hairline | 11.8% | 2/17 |
| Reduced subcutaneous adipose tissue | 11.8% | 2/17 |
| Sacral dimple | 11.8% | 2/17 |
| Single transverse palmar crease | 11.8% | 2/17 |
| Webbed neck | 11.8% | 2/17 |
| Forehead hyperpigmentation | 5.9% | 1/17 |
| Frontal upsweep of hair | 5.9% | 1/17 |
| Highly arched eyebrow | 5.9% | 1/17 |
| Hypertrichosis | 5.9% | 1/17 |
| Long eyelashes | 5.9% | 1/17 |
| Spotty hyperpigmentation | 5.9% | 1/17 |
| Synophrys | 5.9% | 1/17 |
| Thick eyebrow | 5.9% | 1/17 |
| Wide intermamillary distance | 5.9% | 1/17 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 23.5% | 4/17 |
| Abnormality of calcium-phosphate metabolism | 11.8% | 2/17 |
| Abnormality of blood glucose concentration | 5.9% | 1/17 |
| Hypothyroidism | 5.9% | 1/17 |
| Recurrent hypoglycemia | 5.9% | 1/17 |
| Abnormality of the metabolic system | 17.6% | 3/17 |
| Renal tubular acidosis | 11.8% | 2/17 |
| Abnormality of blood glucose concentration | 5.9% | 1/17 |
| Lactose intolerance | 5.9% | 1/17 |
| Abnormality of the immune system | 23.5% | 4/17 |
| Recurrent pneumonia | 23.5% | 4/17 |
| Recurrent bronchiolitis | 5.9% | 1/17 |
| Recurrent urinary tract infections | 5.9% | 1/17 |