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1 OMIM reference -
3 associated genes
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
1 associated gene
10 signs/symptoms
Haddad syndrome
Metachondromatosis

ASCL1 PTPN11
PHOX2B
RET


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Haddad syndrome
ASCL1 PHOX2B RET
Metachondromatosis
PTPN11



Haddad syndrome
Metachondromatosis

Synonym(s):
- Congenital central alveolar hypoventilation - Hirschsprung disease
- Ondine-Hirschsprung disease
- Ondine-Hirschsprung syndrome

Synonym(s):
(no synonyms)

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

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

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


Haddad syndrome
Metachondromatosis

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


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