Silverman-Handmaker type dyssegmental dysplasia
MeSH: C537998ORPHA: 1865
Overview
osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has material basis in homozygous or compound heterozygous mutation in the HSPG2 gene on chromosome 1p36
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Silverman-Handmaker type dyssegmental dysplasia, sourced from HPO and Orphanet clinical annotations.
Short neckNarrow chestLimitation of joint mobilityTalipes equinovarusAnisospondylyBowing of the legsMicromeliaShort long boneSevere short statureLimb undergrowthFlat faceAbnormality of limbsCryptorchidismAbnormality of the genitourinary systemNarrow mouthCleft palateHydrocephalusMicrocephalyMicrognathiaPosteriorly rotated earsLow-set earsWide nasal bridgeDevelopmental cataractProptosisShort ribsHypoplastic iliaHirsutismPterygiumSingle umbilical arteryFlexion contractureAbnormal heart morphologyHydrops fetalisEncephalocelePulmonary hypoplasiaRespiratory insufficiencyHypoplastic pubic boneHypoplastic ischiaBroad long bonesIncreased placental thicknessClubbing of fingers
Classification & Codes
MeSH Code
C537998Orphanet Code
ORPHA:1865Silverman-Handmaker type dyssegmental dysplasia
| MeSH | C537998 |
| Orphanet | ORPHA:1865 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO