ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
14 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Growth delay due to insulin-like growth factor I resistance


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.63)	IGF1R

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Growth delay due to insulin-like growth factor I resistance
	Synonym(s): (no synonyms)		Synonym(s): - Resistance to IGF-1

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal recessive inheritance - Short stature / dwarfism / nanism

Dyssegmental dysplasia, Silverman-Handmaker type		Growth delay due to insulin-like growth factor I resistance
	Very frequent - Abnormal vertebral size / shape - 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 Frequent - 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		Very frequent - Autosomal dominant inheritance - Chromosomal or genetic anomaly - Intrauterine growth retardation Frequent - Abnormally placed nipples - Broad nasal root - Everted lower lip - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Pectus excavatum - Philtrum flat / large / featureless / absent cupidon bows - Short hand / brachydactyly - Thin / retracted lips