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% | 0/38 |
| Birth Weight abnormalities | 5.3% | 2/38 |
| < P3 : Small for gestational age | 2.6% | 1/38 |
| > P98 : Large for gestational age | 2.6% | 1/38 |
| Birth Head circumference abnormalities | 0% | 0/37 |
| Current Height abnormalities | 7.9% | 3/38 |
| < P3 : Short stature | 7.9% | 3/38 |
| Current Weight abnormalities | 0% | 0/38 |
| Current Head circumference abnormalities | 18.4% | 7/38 |
| < P3 : Microcephaly | 18.4% | 7/38 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 40/40 |
| Febrile seizure (within the age range of 3 months to 6 years) | 87.5% | 35/40 |
| Global developmental delay | 82.5% | 33/40 |
| Spasticity | 42.5% | 17/40 |
| Delayed myelination | 10.0% | 4/40 |
| Bilateral tonic-clonic seizure with focal onset | 2.5% | 1/40 |
| Complex febrile seizure | 2.5% | 1/40 |
| Epileptic spasm | 2.5% | 1/40 |
| Focal-onset seizure | 2.5% | 1/40 |
| Generalized-onset seizure | 2.5% | 1/40 |
| obsolete Excessive daytime sleepiness | 2.5% | 1/40 |
| obsolete Mental retardation, in some | 2.5% | 1/40 |
| Pachygyria | 2.5% | 1/40 |
| Brain abnormality | 100.0% | 41/41 |
| Abnormal anterior fontanelle morphology | 63.4% | 26/41 |
| Microcephaly | 63.4% | 26/41 |
| Ventriculomegaly | 58.5% | 24/41 |
| Aplasia/Hypoplasia of the corpus callosum | 39.0% | 16/41 |
| Cerebral cortical atrophy | 36.6% | 15/41 |
| Choroid plexus cyst | 26.8% | 11/41 |
| Abnormal corpus callosum morphology | 14.6% | 6/41 |
| Polymicrogyria | 14.6% | 6/41 |
| Aplasia/Hypoplasia of the cerebellum | 4.9% | 2/41 |
| Hydrocephalus | 4.9% | 2/41 |
| Abnormal cerebral ventricle morphology | 2.4% | 1/41 |
| Antenatal intracerebral hemorrhage | 2.4% | 1/41 |
| Aqueductal stenosis | 2.4% | 1/41 |
| Brain atrophy | 2.4% | 1/41 |
| Cavum septum pellucidum | 2.4% | 1/41 |
| Corpus callosum atrophy | 2.4% | 1/41 |
| Cortical dysplasia | 2.4% | 1/41 |
| Dolichocephaly | 2.4% | 1/41 |
| Dysplastic corpus callosum | 2.4% | 1/41 |
| Plagiocephaly | 2.4% | 1/41 |
| Short corpus callosum | 2.4% | 1/41 |
| Facial abnormalities | ||
| Abnormality of the ear | 97.5% | 39/40 |
| Low-set ears | 82.5% | 33/40 |
| Abnormal pinna morphology | 80.0% | 32/40 |
| Abnormal earlobe morphology | 2.5% | 1/40 |
| Large earlobe | 2.5% | 1/40 |
| obsolete Low-set, posteriorly rotated ears | 2.5% | 1/40 |
| Prominent antitragus | 2.5% | 1/40 |
| Uplifted earlobe | 2.5% | 1/40 |
| Abnormality of the eye | 100.0% | 40/40 |
| Hypertelorism | 80.0% | 32/40 |
| Abnormally large globe | 72.5% | 29/40 |
| Slanting of the palpebral fissure | 37.5% | 15/40 |
| Alacrima | 35.0% | 14/40 |
| Abnormal fundus morphology | 20.0% | 8/40 |
| Abnormal pinna morphology | 7.5% | 3/40 |
| Shallow orbits | 7.5% | 3/40 |
| Strabismus | 7.5% | 3/40 |
| Abnormal shape of the palpebral fissure | 5.0% | 2/40 |
| Decreased corneal sensation | 5.0% | 2/40 |
| Infra-orbital crease | 5.0% | 2/40 |
| Abnormal fundus autofluorescence imaging | 2.5% | 1/40 |
| Abnormal optic disc morphology | 2.5% | 1/40 |
| Blepharophimosis | 2.5% | 1/40 |
| Blue sclerae | 2.5% | 1/40 |
| Entropion | 2.5% | 1/40 |
| Myopia | 2.5% | 1/40 |
| Nystagmus | 2.5% | 1/40 |
| Optic atrophy | 2.5% | 1/40 |
| Abnormality of the nose | 97.5% | 39/40 |
| Short nose | 95.0% | 38/40 |
| Depressed nasal bridge | 5.0% | 2/40 |
| Anteverted nares | 2.5% | 1/40 |
| obsolete Thin anteverted nares | 2.5% | 1/40 |
| Prominent nose | 2.5% | 1/40 |
| Wide nose | 2.5% | 1/40 |
| Abnormality of the mouth | 94.7% | 36/38 |
| Microretrognathia | 52.6% | 20/38 |
| Macroglossia | 47.4% | 18/38 |
| Micrognathia | 10.5% | 4/38 |
| Infra-orbital crease | 7.9% | 3/38 |
| Choanal stenosis | 5.3% | 2/38 |
| Carious teeth | 2.6% | 1/38 |
| Retrognathia | 2.6% | 1/38 |
| Tongue fasciculations | 2.6% | 1/38 |
| Visual and hearing impairments | ||
| Abnormal hearing | 92.0% | 23/25 |
| Hearing impairment | 72.0% | 18/25 |
| Mid-frequency hearing loss | 8.0% | 2/25 |
| Sensorineural hearing impairment | 8.0% | 2/25 |
| Conductive hearing impairment | 4.0% | 1/25 |
| Abnormal vision | 87.5% | 21/24 |
| Abnormality of vision | 70.8% | 17/24 |
| Alacrima | 8.3% | 2/24 |
| Abnormal fundus morphology | 4.2% | 1/24 |
| Abnormal cornea morphology | 4.2% | 1/24 |
| Blindness | 4.2% | 1/24 |
| Cerebral visual impairment | 4.2% | 1/24 |
| Hypermetropia | 4.2% | 1/24 |
| Heart | ||
| Abnormality of the heart | 46.2% | 18/39 |
| Abnormal heart morphology | 30.8% | 12/39 |
| Patent ductus arteriosus | 7.7% | 3/39 |
| Patent foramen ovale | 7.7% | 3/39 |
| Abnormal atrial septum morphology | 5.1% | 2/39 |
| Abnormal cardiac septum morphology | 2.6% | 1/39 |
| Atrial septal defect | 2.6% | 1/39 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 23.3% | 7/30 |
| Abnormality of the genital system | 3.3% | 1/30 |
| Abnormal epiglottis morphology | 3.3% | 1/30 |
| Aplasia/Hypoplasia of the pancreas | 3.3% | 1/30 |
| Diastasis recti | 3.3% | 1/30 |
| Gastrointestinal dysmotility | 3.3% | 1/30 |
| Hepatic steatosis | 3.3% | 1/30 |
| Hydronephrosis | 3.3% | 1/30 |
| Laryngomalacia | 3.3% | 1/30 |
| Posteriorly placed anus | 3.3% | 1/30 |
| Vocal cord paralysis | 3.3% | 1/30 |
| Vomiting | 3.3% | 1/30 |
| Urogenital | ||
| Abnormality of the urogenital system | 97.6% | 40/41 |
| Hydronephrosis | 95.1% | 39/41 |
| Abnormality of the genital system | 75.6% | 31/41 |
| Dilatation of renal calices | 7.3% | 3/41 |
| Hypospadias | 7.3% | 3/41 |
| Nephrolithiasis | 7.3% | 3/41 |
| Cryptorchidism | 4.9% | 2/41 |
| Abnormal renal calyx morphology | 2.4% | 1/41 |
| Abnormal penis morphology | 2.4% | 1/41 |
| Abnormal reproductive system morphology | 2.4% | 1/41 |
| Abnormal labia majora morphology | 2.4% | 1/41 |
| Abnormal external genitalia morphology | 2.4% | 1/41 |
| Bladder diverticulum | 2.4% | 1/41 |
| Choanal stenosis | 2.4% | 1/41 |
| Clitoral hypertrophy | 2.4% | 1/41 |
| Enlarged labia minora | 2.4% | 1/41 |
| Hepatosplenomegaly | 2.4% | 1/41 |
| Hydrocele testis | 2.4% | 1/41 |
| Hydroureter | 2.4% | 1/41 |
| Hypoplastic labia majora | 2.4% | 1/41 |
| Hypoplasia of penis | 2.4% | 1/41 |
| Inverted nipples | 2.4% | 1/41 |
| Partially duplicated kidney | 2.4% | 1/41 |
| Penoscrotal transposition | 2.4% | 1/41 |
| Polycystic kidney dysplasia | 2.4% | 1/41 |
| Urogenital sinus anomaly | 2.4% | 1/41 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 39/39 |
| Broad ribs | 64.1% | 25/39 |
| Short neck | 46.2% | 18/39 |
| Osteosclerosis of the base of the skull | 35.9% | 14/39 |
| Shortening of all distal phalanges of the fingers | 35.9% | 14/39 |
| Shortening of all distal phalanges of the toes | 35.9% | 14/39 |
| Abnormal metaphysis morphology | 33.3% | 13/39 |
| Hypoplastic pubic bone | 33.3% | 13/39 |
| Short 1st metacarpal | 28.2% | 11/39 |
| Long clavicles | 25.6% | 10/39 |
| Massively thickened long bone cortices | 20.5% | 8/39 |
| Wormian bones | 20.5% | 8/39 |
| Hypoplasia of first ribs | 15.4% | 6/39 |
| Abnormal cranial suture/fontanelle morphology | 10.3% | 4/39 |
| Femoral bowing | 7.7% | 3/39 |
| Postaxial polydactyly | 7.7% | 3/39 |
| Scoliosis | 7.7% | 3/39 |
| Abnormal distal toe phalanx morphology | 5.1% | 2/39 |
| Abnormal ossification of the pubic bone | 5.1% | 2/39 |
| Abnormal occipital bone morphology | 5.1% | 2/39 |
| Progressive sclerosis of skull base | 5.1% | 2/39 |
| Radioulnar synostosis | 5.1% | 2/39 |
| Rocker bottom foot | 5.1% | 2/39 |
| Sclerosis of skull base | 5.1% | 2/39 |
| Tibial bowing | 5.1% | 2/39 |
| Abnormal morphology of bony orbit of skull | 2.6% | 1/39 |
| Abnormal 1st metacarpal morphology | 2.6% | 1/39 |
| Abnormal distal femoral metaphysis morphology | 2.6% | 1/39 |
| Abnormal skull morphology | 2.6% | 1/39 |
| Abnormal pubic bone morphology | 2.6% | 1/39 |
| Aplasia/Hypoplasia of the distal phalanges of the toes | 2.6% | 1/39 |
| Aplastic pubic bone | 2.6% | 1/39 |
| Aplasia/Hypoplasia of the distal phalanges of the hand | 2.6% | 1/39 |
| Bowed forearm bones | 2.6% | 1/39 |
| Congenital talipes calcaneovalgus | 2.6% | 1/39 |
| Craniosynostosis | 2.6% | 1/39 |
| Enlarged metaphyses | 2.6% | 1/39 |
| Hemivertebrae | 2.6% | 1/39 |
| Hip dysplasia | 2.6% | 1/39 |
| Horizontal ribs | 2.6% | 1/39 |
| Large pelvis bone | 2.6% | 1/39 |
| Narrow chest | 2.6% | 1/39 |
| Pectus carinatum | 2.6% | 1/39 |
| Polydactyly | 2.6% | 1/39 |
| Talipes calcaneovalgus | 2.6% | 1/39 |
| Unilambdoid synostosis | 2.6% | 1/39 |
| 4-5 finger cutaneous syndactyly | 2.6% | 1/39 |
| 2-3 toe syndactyly | 2.6% | 1/39 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 70.3% | 26/37 |
| Hypertrichosis | 48.6% | 18/37 |
| Cutis marmorata | 8.1% | 3/37 |
| Generalized hypertrichosis | 8.1% | 3/37 |
| Abnormal dermatoglyphics | 2.7% | 1/37 |
| Abnormality of the palmar creases | 2.7% | 1/37 |
| Abnormal rib morphology | 2.7% | 1/37 |
| Facial hypertrichosis | 2.7% | 1/37 |
| Generalized hirsutism | 2.7% | 1/37 |
| Hyperconvex nail | 2.7% | 1/37 |
| Hyperconvex fingernails | 2.7% | 1/37 |
| Hypoplastic toenails | 2.7% | 1/37 |
| obsolete Central hypotonia | 2.7% | 1/37 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 18.2% | 4/22 |
| Hypothyroidism | 9.1% | 2/22 |
| Abnormal cellular immune system morphology | 4.5% | 1/22 |
| Anemia | 4.5% | 1/22 |
| Abnormality of the metabolic system | 77.8% | 28/36 |
| Failure to thrive | 77.8% | 28/36 |
| Abnormality of the immune system | 10.5% | 2/19 |
| Recurrent respiratory infections | 5.3% | 1/19 |
| Recurrent urinary tract infections | 5.3% | 1/19 |
| Neoplasia | ||
| Neoplasia | 37.1% | 13/35 |
| Facial hemangioma | 14.3% | 5/35 |
| Sacrococcygeal teratoma | 11.4% | 4/35 |
| Abnormality of the kidney | 2.9% | 1/35 |
| Ependymoma | 2.9% | 1/35 |
| Ependymoblastoma | 2.9% | 1/35 |
| Juvenile myelomonocytic leukemia | 2.9% | 1/35 |
| Primitive neuroectodermal tumor | 2.9% | 1/35 |