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Metachondromatosis

1 OMIM reference -
1 associated gene
10 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

Haddad syndrome

1 OMIM reference -
3 associated genes
19 signs/symptoms

Metachondromatosis

Haddad syndrome

PTPN11	(UniProt - OMIM)		ASCL1	(UniProt - OMIM)
			PHOX2B	(UniProt - OMIM)
			RET	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	PTPN11	(0.52)	RET

Citations in the biomedical literature:

Metachondromatosis		Haddad syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance

Metachondromatosis		Haddad syndrome
	Very frequent - Bone pain - Cranial nerves palsy - Enchondroses - Epiphyseal anomaly - Exostoses - Metaphyseal anomaly - Osteonecrosis / bone infarction - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Periarticular tissue anomaly / extraarticular calcifications		Very frequent - Apnea / sleep apnea - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Dysautonomia / autonomous nervous sytem anomalies - Failure to thrive / difficulties for feeding in infancy / growth delay - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Respiratory rhythm disorder - Short stature / dwarfism / nanism - Strabismus / squint Frequent - Death in infancy - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Fetal immobility / abnormal fetal movements - Neuroblastoma - Oligoamnios - Polyhydramnios - Sensorineural deafness / hearing loss