Synonym(s): - DGSX - Golabi-Rosen syndrome - SDYS - SGBS - SGBS1 - Simpson dysmorphia syndrome - Simpson-Golabi-Behmel syndrome type 1 - X-linked dysplasia gigantism syndrome
Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare neurologic disease - Rare oncologic disease - Rare otorhinolaryngologic disease - Rare renal disease - Rare surgical thoracic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked recessive		External references: 1 OMIM reference - See 1 MeSH reference: C537340
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
GPC3	P51654	300037
GPC4	O75487	300168

- Abnormal vertebral size / shape
- Anomalies of the ribs
- Broad foot
- Coarse face
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Macrostomia / big mouth
- Multicystic kidney / renal dysplasia
- Postaxial polydactyly (hand)
- Prognathism / prognathia
- Short foot / brachydactyly of toes
- Splenomegaly
- Supernumerary nipples / polythelia
- Tall stature / gigantism / growth acceleration
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- X-linked recessive inheritance

- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Atrial septal defect / interauricular communication
- Broad nose / nasal bridge
- Broad / bifid thumb
- Camptodactyly of fingers
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Death in infancy
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High vaulted / narrow palate
- Hypoglycemia
- Inguinal / inguinoscrotal / crural hernia
- Low set ears / posteriorly rotated ears
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Omphalocele / exomphalos
- Pectus excavatum
- Polyhydramnios
- Scoliosis
- Short neck
- Short / small nose
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Stillbirth / neonatal death
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thin / hypoplastic / hyperconvex fingernails
- Umbilical hernia
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis
- Ventricular septal defect / interventricular communication
- Webbed neck / pterygium colli

- Abnormal cry / voice / phonation disorder / nasal speech
- Advanced bone age
- Asplenia / polysplenia / spleen lobulation / accessory spleen
- Cardiomyopathy / hypertrophic / dilated
- Cleft lip
- Corpus callosum / septum pellucidum total / partial agenesis
- Dandy-Walker anomaly
- Diaphragmatic hernia / defect / agenesis
- Epicanthic folds
- Hepatoblastoma
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micropenis / small penis / agenesis
- Neoplasms / tumors
- Nephroblastoma / Wilms tumor
- Neuroblastoma
- Seizures / epilepsy / absences / spasms / status epilepticus
- Structural anomalies of the pancreas
- Talipes-varus / metatarsal varus