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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 9

Pallister-Hall syndrome

1 OMIM reference -
2 associated genes
39 signs/symptoms

Saethre-Chotzen syndrome

Pallister-Hall syndrome

FGFR2	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)		TCF4	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	TWIST1	(0.52)	GLI3

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Pallister-Hall syndrome
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - Hypothalamic hamartoblastoma syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic 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): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Neoplasms -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy 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 - 1 MeSH reference: D054975


COMMON SIGNS	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Undescended / ectopic testes / cryptorchidia / unfixed testes

Saethre-Chotzen syndrome		Pallister-Hall syndrome
	Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies Frequent - Beaked nose - Dystonia / torticollis / writer's cramp / blepharospasms - External auditory canal atresia / stenosis / agenesis - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - Hypertelorism - Low hair line-front - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Ptosis - Simian crease / transverse / unique palmar crease - Strabismus / squint Occasional - Apnea / sleep apnea - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Cranial hypertension - Early death / lethality - Facial pain / cephalalgia / migraine - Hallux valgus - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Scoliosis - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Visual loss / blindness / amblyopia		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 - Cortico-adrenal hypoplasia / insufficiency - Depressed nasal bridge - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Mesomelic micromelia - Microglossia / aglossia / hypoglossia / tongue hypoplasia - Micrognathia / retrognathia / micrognathism / retrognathism - Micropenis / small penis / agenesis - Multicystic kidney / renal dysplasia - Short / small nose - Tracheo-esophageal fistula / esophageal atresia / stenosis Occasional - Agenesis / hypoplasia / aplasia of kidneys - Cardiac valvulopathy - Corpus callosum / septum pellucidum total / partial agenesis - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - Oral synechiae / abnormal frenulae - Patent ductus arteriosus - Postaxial polydactyly of toes / fifth supernumerary toe - Precocious puberty - Psychic / behavioural troubles - Stillbirth / neonatal death - Syndactyly of toes - Thyroid anomalies - Ventricular septal defect / interventricular communication