Cytoscape Web
Click node...

Dyssegmental dysplasia, Silverman-Handmaker type
1 OMIM reference -
1 associated gene
48 connected diseases
18 signs/symptoms
Disease Type of connection
Schwartz-Jampel syndrome
Familial amyloid polyneuropathy
Fibronectin glomerulopathy
Transthyretin-related familial amyloid cardiomyopathy
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
Behavioral variant of frontotemporal dementia
CLN11 disease
Progressive non-fluent aphasia
Semantic dementia
Lipoid proteinosis
Alternating hemiplegia of childhood
Autosomal recessive limb-girdle muscular dystrophy type 2G
Benign paroxysmal torticollis of infancy
Dentatorubral pallidoluysian atrophy
Distal myopathy with posterior leg and anterior hand involvement
Familial isolated dilated cardiomyopathy
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Gray platelet syndrome
Growth delay due to insulin-like growth factor I resistance
Muscle filaminopathy
Spinocerebellar ataxia type 6
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synpolydactyly type 2
Osteogenesis imperfecta type 3
Acromicric dysplasia
Diffuse cutaneous systemic sclerosis
Familial thoracic aortic aneurysm and aortic dissection
Fetal and neonatal alloimmune thrombocytopenia
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Limited cutaneous systemic sclerosis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Familial capillary hemangioma
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
HSPG2 P98160142461
Very frequent
- Abnormal vertebral size / shape
- Autosomal recessive inheritance
- Blue sclerae
- Bowed diaphysis / diaphyses / long bones
- Metaphyseal anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Restricted joint mobility / joint stiffness / ankylosis
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

- Atrial septal defect / interauricular communication
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Flattened nose
- Inguinal / inguinoscrotal / crural hernia
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Stillbirth / neonatal death
- Umbilical hernia