SETBP1 Schinzel-Giedion syndrome
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 55.3% | 26/47 |
| Female | 44.7% | 21/47 |
| Indifferent | 0% | 0/47 |
| Unknown | 0% | 0/47 |
| General | ||
| Birth Length abnormalities | 0% | 0/43 |
| Birth Weight abnormalities | 4.7% | 2/43 |
| < P3 : Small for gestational age | 2.3% | 1/43 |
| > P98 : Large for gestational age | 2.3% | 1/43 |
| Birth Head circumference abnormalities | 0% | 0/42 |
| Current Height abnormalities | 7.0% | 3/43 |
| < P3 : Short stature | 7.0% | 3/43 |
| Current Weight abnormalities | 0% | 0/43 |
| Current Head circumference abnormalities | 16.3% | 7/43 |
| < P3 : Microcephaly | 16.3% | 7/43 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 45/45 |
| Febrile seizure (within the age range of 3 months to 6 years) | 86.7% | 39/45 |
| Global developmental delay | 82.2% | 37/45 |
| Spasticity | 44.4% | 20/45 |
| Delayed myelination | 11.1% | 5/45 |
| Pachygyria | 4.4% | 2/45 |
| Abnormal fundus morphology | 2.2% | 1/45 |
| Bilateral tonic-clonic seizure with focal onset | 2.2% | 1/45 |
| Complex febrile seizure | 2.2% | 1/45 |
| Epileptic spasm | 2.2% | 1/45 |
| Focal-onset seizure | 2.2% | 1/45 |
| Generalized-onset seizure | 2.2% | 1/45 |
| obsolete Excessive daytime sleepiness | 2.2% | 1/45 |
| obsolete Mental retardation, in some | 2.2% | 1/45 |
| Brain abnormality | 100.0% | 46/46 |
| Abnormal anterior fontanelle morphology | 63.0% | 29/46 |
| Microcephaly | 63.0% | 29/46 |
| Ventriculomegaly | 56.5% | 26/46 |
| Aplasia/Hypoplasia of the corpus callosum | 45.7% | 21/46 |
| Cerebral cortical atrophy | 37.0% | 17/46 |
| Choroid plexus cyst | 28.3% | 13/46 |
| Abnormal corpus callosum morphology | 13.0% | 6/46 |
| Polymicrogyria | 13.0% | 6/46 |
| Aplasia/Hypoplasia of the cerebellum | 4.3% | 2/46 |
| Hydrocephalus | 4.3% | 2/46 |
| Abnormal cerebral ventricle morphology | 2.2% | 1/46 |
| Antenatal intracerebral hemorrhage | 2.2% | 1/46 |
| Aqueductal stenosis | 2.2% | 1/46 |
| Brain atrophy | 2.2% | 1/46 |
| Cavum septum pellucidum | 2.2% | 1/46 |
| Corpus callosum atrophy | 2.2% | 1/46 |
| Cortical dysplasia | 2.2% | 1/46 |
| Dolichocephaly | 2.2% | 1/46 |
| Dysplastic corpus callosum | 2.2% | 1/46 |
| Plagiocephaly | 2.2% | 1/46 |
| Short corpus callosum | 2.2% | 1/46 |
| Facial abnormalities | ||
| Abnormality of the ear | 97.7% | 43/44 |
| Low-set ears | 84.1% | 37/44 |
| Abnormal pinna morphology | 79.5% | 35/44 |
| Abnormal earlobe morphology | 2.3% | 1/44 |
| Large earlobe | 2.3% | 1/44 |
| obsolete Low-set, posteriorly rotated ears | 2.3% | 1/44 |
| Prominent antitragus | 2.3% | 1/44 |
| Uplifted earlobe | 2.3% | 1/44 |
| Abnormality of the eye | 100.0% | 44/44 |
| Hypertelorism | 81.8% | 36/44 |
| Abnormally large globe | 75.0% | 33/44 |
| Alacrima | 38.6% | 17/44 |
| Slanting of the palpebral fissure | 38.6% | 17/44 |
| Abnormal fundus morphology | 20.5% | 9/44 |
| Abnormal pinna morphology | 6.8% | 3/44 |
| Shallow orbits | 6.8% | 3/44 |
| Strabismus | 6.8% | 3/44 |
| Abnormal shape of the palpebral fissure | 4.5% | 2/44 |
| Decreased corneal sensation | 4.5% | 2/44 |
| Infra-orbital crease | 4.5% | 2/44 |
| Abnormal optic disc morphology | 2.3% | 1/44 |
| Abnormal fundus autofluorescence imaging | 2.3% | 1/44 |
| Blepharophimosis | 2.3% | 1/44 |
| Blue sclerae | 2.3% | 1/44 |
| Entropion | 2.3% | 1/44 |
| Myopia | 2.3% | 1/44 |
| Nystagmus | 2.3% | 1/44 |
| Optic atrophy | 2.3% | 1/44 |
| Abnormality of the nose | 97.7% | 43/44 |
| Short nose | 95.5% | 42/44 |
| Depressed nasal bridge | 4.5% | 2/44 |
| Anteverted nares | 2.3% | 1/44 |
| obsolete Thin anteverted nares | 2.3% | 1/44 |
| Prominent nose | 2.3% | 1/44 |
| Wide nose | 2.3% | 1/44 |
| Abnormality of the mouth | 92.9% | 39/42 |
| Microretrognathia | 52.4% | 22/42 |
| Macroglossia | 45.2% | 19/42 |
| Micrognathia | 9.5% | 4/42 |
| Infra-orbital crease | 7.1% | 3/42 |
| Choanal stenosis | 4.8% | 2/42 |
| Carious teeth | 2.4% | 1/42 |
| Retrognathia | 2.4% | 1/42 |
| Tongue fasciculations | 2.4% | 1/42 |
| Visual and hearing impairments | ||
| Abnormal hearing | 92.6% | 25/27 |
| Hearing impairment | 74.1% | 20/27 |
| Mid-frequency hearing loss | 7.4% | 2/27 |
| Sensorineural hearing impairment | 7.4% | 2/27 |
| Conductive hearing impairment | 3.7% | 1/27 |
| Abnormal vision | 84.6% | 22/26 |
| Abnormality of vision | 69.2% | 18/26 |
| Alacrima | 7.7% | 2/26 |
| Abnormal cornea morphology | 3.8% | 1/26 |
| Abnormal fundus morphology | 3.8% | 1/26 |
| Blindness | 3.8% | 1/26 |
| Cerebral visual impairment | 3.8% | 1/26 |
| Hypermetropia | 3.8% | 1/26 |
| Heart | ||
| Abnormality of the heart | 44.2% | 19/43 |
| Abnormal heart morphology | 30.2% | 13/43 |
| Patent foramen ovale | 7.0% | 3/43 |
| Patent ductus arteriosus | 7.0% | 3/43 |
| Abnormal atrial septum morphology | 4.7% | 2/43 |
| Abnormal cardiac septum morphology | 2.3% | 1/43 |
| Atrial septal defect | 2.3% | 1/43 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 23.5% | 8/34 |
| Abnormality of the genital system | 2.9% | 1/34 |
| Abnormal epiglottis morphology | 2.9% | 1/34 |
| Aplasia/Hypoplasia of the pancreas | 2.9% | 1/34 |
| Diastasis recti | 2.9% | 1/34 |
| Gastroesophageal reflux | 2.9% | 1/34 |
| Gastrointestinal dysmotility | 2.9% | 1/34 |
| Hepatic steatosis | 2.9% | 1/34 |
| Hydronephrosis | 2.9% | 1/34 |
| Laryngomalacia | 2.9% | 1/34 |
| Posteriorly placed anus | 2.9% | 1/34 |
| Vocal cord paralysis | 2.9% | 1/34 |
| Vomiting | 2.9% | 1/34 |
| Urogenital | ||
| Abnormality of the urogenital system | 97.8% | 45/46 |
| Hydronephrosis | 95.7% | 44/46 |
| Abnormality of the genital system | 76.1% | 35/46 |
| Hypospadias | 8.7% | 4/46 |
| Dilatation of renal calices | 6.5% | 3/46 |
| Nephrolithiasis | 6.5% | 3/46 |
| Cryptorchidism | 4.3% | 2/46 |
| Hypoplastic labia majora | 4.3% | 2/46 |
| Abnormal renal calyx morphology | 2.2% | 1/46 |
| Abnormal reproductive system morphology | 2.2% | 1/46 |
| Abnormal external genitalia morphology | 2.2% | 1/46 |
| Abnormal penis morphology | 2.2% | 1/46 |
| Abnormal labia majora morphology | 2.2% | 1/46 |
| Bladder diverticulum | 2.2% | 1/46 |
| Choanal stenosis | 2.2% | 1/46 |
| Clitoral hypertrophy | 2.2% | 1/46 |
| Enlarged labia minora | 2.2% | 1/46 |
| Hepatosplenomegaly | 2.2% | 1/46 |
| Hydrocele testis | 2.2% | 1/46 |
| Hydroureter | 2.2% | 1/46 |
| Hypoplasia of penis | 2.2% | 1/46 |
| Inverted nipples | 2.2% | 1/46 |
| Partially duplicated kidney | 2.2% | 1/46 |
| Penoscrotal transposition | 2.2% | 1/46 |
| Polycystic kidney dysplasia | 2.2% | 1/46 |
| Urogenital sinus anomaly | 2.2% | 1/46 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 43/43 |
| Broad ribs | 62.8% | 27/43 |
| Short neck | 51.2% | 22/43 |
| Shortening of all distal phalanges of the fingers | 39.5% | 17/43 |
| Shortening of all distal phalanges of the toes | 39.5% | 17/43 |
| Abnormal metaphysis morphology | 34.9% | 15/43 |
| Osteosclerosis of the base of the skull | 34.9% | 15/43 |
| Hypoplastic pubic bone | 32.6% | 14/43 |
| Long clavicles | 25.6% | 11/43 |
| Short 1st metacarpal | 25.6% | 11/43 |
| Massively thickened long bone cortices | 23.3% | 10/43 |
| Hypoplasia of first ribs | 18.6% | 8/43 |
| Wormian bones | 18.6% | 8/43 |
| Abnormal cranial suture/fontanelle morphology | 9.3% | 4/43 |
| Femoral bowing | 7.0% | 3/43 |
| Postaxial polydactyly | 7.0% | 3/43 |
| Scoliosis | 7.0% | 3/43 |
| Abnormal occipital bone morphology | 4.7% | 2/43 |
| Abnormal ossification of the pubic bone | 4.7% | 2/43 |
| Abnormal distal toe phalanx morphology | 4.7% | 2/43 |
| Hemivertebrae | 4.7% | 2/43 |
| Progressive sclerosis of skull base | 4.7% | 2/43 |
| Radioulnar synostosis | 4.7% | 2/43 |
| Rocker bottom foot | 4.7% | 2/43 |
| Sclerosis of skull base | 4.7% | 2/43 |
| Tibial bowing | 4.7% | 2/43 |
| Abnormal distal femoral metaphysis morphology | 2.3% | 1/43 |
| Abnormal morphology of bony orbit of skull | 2.3% | 1/43 |
| Abnormal pubic bone morphology | 2.3% | 1/43 |
| Abnormal skull morphology | 2.3% | 1/43 |
| Abnormal 1st metacarpal morphology | 2.3% | 1/43 |
| Aplastic pubic bone | 2.3% | 1/43 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 2.3% | 1/43 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 2.3% | 1/43 |
| Bowed forearm bones | 2.3% | 1/43 |
| Congenital talipes calcaneovalgus | 2.3% | 1/43 |
| Craniosynostosis | 2.3% | 1/43 |
| Enlarged metaphyses | 2.3% | 1/43 |
| Hip dysplasia | 2.3% | 1/43 |
| Horizontal ribs | 2.3% | 1/43 |
| Inguinal hernia | 2.3% | 1/43 |
| Large pelvis bone | 2.3% | 1/43 |
| Laryngotracheomalacia | 2.3% | 1/43 |
| Limited elbow extension | 2.3% | 1/43 |
| Limited knee extension | 2.3% | 1/43 |
| Narrow chest | 2.3% | 1/43 |
| Pectus carinatum | 2.3% | 1/43 |
| Polydactyly | 2.3% | 1/43 |
| Talipes calcaneovalgus | 2.3% | 1/43 |
| Talipes equinovarus | 2.3% | 1/43 |
| Unilambdoid synostosis | 2.3% | 1/43 |
| 4-5 finger cutaneous syndactyly | 2.3% | 1/43 |
| 2-3 toe syndactyly | 2.3% | 1/43 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 73.2% | 30/41 |
| Hypertrichosis | 53.7% | 22/41 |
| Cutis marmorata | 7.3% | 3/41 |
| Generalized hypertrichosis | 7.3% | 3/41 |
| Abnormality of the palmar creases | 2.4% | 1/41 |
| Abnormal rib morphology | 2.4% | 1/41 |
| Abnormal dermatoglyphics | 2.4% | 1/41 |
| Facial hypertrichosis | 2.4% | 1/41 |
| Generalized hirsutism | 2.4% | 1/41 |
| Hyperconvex nail | 2.4% | 1/41 |
| Hyperconvex fingernails | 2.4% | 1/41 |
| Hypoplastic toenails | 2.4% | 1/41 |
| obsolete Central hypotonia | 2.4% | 1/41 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.8% | 5/24 |
| Hypothyroidism | 8.3% | 2/24 |
| Abnormal cellular immune system morphology | 4.2% | 1/24 |
| Anemia | 4.2% | 1/24 |
| Hemolytic anemia | 4.2% | 1/24 |
| Abnormality of the metabolic system | 80.0% | 32/40 |
| Failure to thrive | 80.0% | 32/40 |
| Abnormality of the immune system | 14.3% | 3/21 |
| Recurrent respiratory infections | 9.5% | 2/21 |
| Hemolytic anemia | 4.8% | 1/21 |
| Recurrent urinary tract infections | 4.8% | 1/21 |
| Neoplasia | ||
| Neoplasia | 37.5% | 15/40 |
| Facial hemangioma | 17.5% | 7/40 |
| Sacrococcygeal teratoma | 10.0% | 4/40 |
| Abnormality of the kidney | 2.5% | 1/40 |
| Ependymoblastoma | 2.5% | 1/40 |
| Ependymoma | 2.5% | 1/40 |
| Juvenile myelomonocytic leukemia | 2.5% | 1/40 |
| Primitive neuroectodermal tumor | 2.5% | 1/40 |