Silverman-Handmaker type dyssegmental dysplasia

MONDO:0009140Mondo

Findings

No curated finding names Silverman-Handmaker type dyssegmental dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.

Definition from the Mondo Disease Ontology (MONDO:0009140), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Congenital onset · Neonatal death · Miscarriage

Features

45 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

AnisospondylyHPOHP:0002879
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Disproportionate short-limb short statureHPOHP:0008873
- 2 of 2 reported patients
Pulmonary hypoplasiaHPOHP:0002089
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
Short long boneHPOHP:0003026
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Thoracic hypoplasiaHPOHP:0005257
- 2 of 2 reported patients

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

HSPG2HGNC:5273
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: neuromuscular disease caused by qualitative or quantitative defects of perlecan
spondyloepiphyseal dysplasia

Show the remaining 33

Severe short statureHPOHP:0003510
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
Short neckHPOHP:0000470
- Frequent (30% to 79% of cases)
Talipes equinovarusHPOHP:0001762
- 1 of 2 reported patients
- Frequent (30% to 79% of cases)
Calvarial skull defectHPOHP:0001362
- 1 of 2 reported patients
CataractHPOHP:0000518
- 1 of 2 reported patients
CryptorchidismHPOHP:0000028
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
MicrocephalyHPOHP:0000252
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
MicrognathiaHPOHP:0000347
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Narrow mouthHPOHP:0000160
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Occipital encephaloceleHPOHP:0002085
- 1 of 2 reported patients
Posteriorly rotated earsHPOHP:0000358
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
PterygiumHPOHP:0001059
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Respiratory insufficiencyHPOHP:0002093
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Single umbilical arteryHPOHP:0001195
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Wide nasal bridgeHPOHP:0000431
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
Abnormal heart morphologyHPOHP:0001627
- Occasional (5% to 29% of cases)
Abnormality of the genitourinary systemHPOHP:0000119
- Occasional (5% to 29% of cases)
Broad long bonesHPOHP:0005622
- Occasional (5% to 29% of cases)
Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
Clubbing of fingersHPOHP:0100759
- Occasional (5% to 29% of cases)
Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
EncephaloceleHPOHP:0002084
- Occasional (5% to 29% of cases)
Flexion contractureHPOHP:0001371
- Occasional (5% to 29% of cases)
HirsutismHPOHP:0001007
- Occasional (5% to 29% of cases)
HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
Hydrops fetalisHPOHP:0001789
- Occasional (5% to 29% of cases)
Hypoplastic iliaHPOHP:0000946
- Occasional (5% to 29% of cases)
Hypoplastic ischiaHPOHP:0003175
- Occasional (5% to 29% of cases)
Hypoplastic pubic boneHPOHP:0003173
- Occasional (5% to 29% of cases)
Increased placental thicknessHPOHP:0032548
- Occasional (5% to 29% of cases)
Low-set earsHPOHP:0000369
- Occasional (5% to 29% of cases)
ProptosisHPOHP:0000520
- Occasional (5% to 29% of cases)
Short ribsHPOHP:0000773
- Occasional (5% to 29% of cases)