Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanSimpson-Golabi-Behmel syndrome
ORPHA:373Malformation syndrome
Also called DGSX · Golabi-Rosen syndrome · SDYS · SGBS · SGBS1 · Simpson dysmorphia syndrome · Simpson-Golabi-Behmel syndrome type 1 · X-linked dysplasia gigantism syndrome
What it is
A rare X-linked multiple congenital anomalies syndrome characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Childhood, Infancy, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
21- Abnormal rib morphology
- Broad foot
- Coarse facial features
- Cryptorchidism
- Hepatomegaly
- Hypertelorism
- Increased circulating IgE concentration
- Macrocephaly
- Macroglossia
- Mandibular prognathia
- Multicystic kidney dysplasia
- Postaxial hand polydactyly
- Short foot
- Short toe
- Splenomegaly
- Supernumerary nipple
- Tall stature
- Ventricular septal defect
- Vertebral fusion
- Vertebral segmentation defect
- Wide mouth
Common30–79%
35- Abnormal cardiovascular system morphology
- Abnormal helix morphology
- Abnormality of speech or vocalization
- Anteverted nares
- Aplasia/Hypoplasia of the abdominal wall musculature
- Atrial septal defect
- Broad thumb
- Bundle branch block
- Camptodactyly of finger
- Cleft palate
- Clinodactyly of the 5th finger
- Death in infancy
- Downslanted palpebral fissures
- Finger syndactyly
- High, narrow palate
- Hydronephrosis
- Hydroureter
- Hypoglycemia
- Inguinal hernia
- Nail dysplasia
- Omphalocele
- Pectus excavatum
- Polyhydramnios
- Posteriorly rotated ears
- Prolonged QT interval
- Scoliosis
- Short 2nd finger
- Short neck
- Short nose
- Small nail
- Toe syndactyly
- Umbilical hernia
- Ureteral duplication
- Webbed neck
- Wide nasal bridge
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
Powered by Eleplan
A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.
Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.