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Haddad syndrome

1 OMIM reference -
3 associated genes
19 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

Haddad syndrome

Pallister-Hall syndrome

ASCL1	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
PHOX2B	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
RET	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASCL1	(0.78)	TCF4

Citations in the biomedical literature:

Haddad syndrome		Pallister-Hall syndrome
	Synonym(s): - Congenital central alveolar hypoventilation - Hirschsprung disease - Ondine-Hirschsprung disease - Ondine-Hirschsprung syndrome		Synonym(s): - Hypothalamic hamartoblastoma syndrome

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Neoplasms -

	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: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D054975


COMMON SIGNS	- Autosomal dominant inheritance - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Haddad syndrome		Pallister-Hall syndrome
	Very frequent - Apnea / sleep apnea - 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 Occasional - Fetal immobility / abnormal fetal movements - Neuroblastoma - Oligoamnios - Polyhydramnios - Sensorineural deafness / hearing loss		Very frequent - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Intrauterine growth retardation - Postaxial polydactyly (hand) Frequent - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cortico-adrenal hypoplasia / insufficiency - Depressed nasal bridge - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Low set ears / posteriorly rotated ears - Mesomelic micromelia - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micrognathia / retrognathia / micrognathism / retrognathism - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Short / small nose - Syndactyly of fingers / interdigital palm - Tracheo-esophageal fistula / esophageal atresia / stenosis - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Abnormal vertebral size / shape - Agenesis / hypoplasia / aplasia of kidneys - Cardiac valvulopathy - Corpus callosum / septum pellucidum total / partial agenesis - Oral synechiae / abnormal frenulae - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Precocious puberty - Psychic / behavioural troubles - Short hand / brachydactyly - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies - Ventricular septal defect / interventricular communication