ODCs

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Dyssegmental dysplasia, Silverman-Handmaker type

1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 7

Geleophysic dysplasia

2 OMIM references -
2 associated genes
44 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Geleophysic dysplasia

HSPG2	(UniProt - OMIM)		ADAMTSL2	(UniProt - OMIM)
			FBN1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.52)	FBN1

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Geleophysic dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Geleophysic dwarfism

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: C537677


COMMON SIGNS	- Abnormal vertebral size / shape - Atrial septal defect / interauricular communication - Autosomal recessive inheritance - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism

Dyssegmental dysplasia, Silverman-Handmaker type		Geleophysic dysplasia
	Very frequent - 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 Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Stillbirth / neonatal death - Umbilical hernia		Very frequent - Anteverted nares / nostrils - Broad cheeks / cherub-like / cherubin face - Cardiac valvulopathy - Cone epiphyses / epiphysis - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Hypertelorism - Long philtrum - Metacarpal anomalies / Archibald's sign - Philtrum flat / large / featureless / absent cupidon bows - Round face - Short foot / brachydactyly of toes - Short hand / brachydactyly - Short / small nose - Thin / retracted lips Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid - Blepharophimosis / short palpebral fissures - Broad nose / nasal bridge - Chronic / relapsing otitis - Death in infancy - Epiphyseal anomaly - Hearing loss / hypoacusia / deafness - Hepatomegaly / liver enlargement (excluding storage disease) - Intrauterine growth retardation - Mitral valve atresia / stenosis / narrowing - Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly - Platyspondyly - Repeat respiratory infections - Round ear - Thick skin / pachydermia / orange skin - tricuspid valve atresia / stenosis / narrowing Occasional - Apnea / sleep apnea - Intellectual deficit / mental / psychomotor retardation / learning disability - Larynx / laryngeal stenosis / atresia - Pulmonary hypertension - Tracheal atresia / stenosis