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Hypochondroplasia

1 OMIM reference -
1 associated gene
21 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

Hypochondroplasia

Saethre-Chotzen syndrome

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Hypochondroplasia		Saethre-Chotzen syndrome
	Synonym(s): (no synonyms)		Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy 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	- Abnormal vertebral size / shape - Apnea / sleep apnea - Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Scoliosis - Short hand / brachydactyly - Short stature / dwarfism / nanism

Hypochondroplasia		Saethre-Chotzen syndrome
	Very frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Short foot / brachydactyly of toes - Short limbs / micromelia / brachymelia Frequent - Elbow anomalies(excluding luxation) - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Genu varum - Hyperextensible joints / articular hyperlaxity - Metaphyseal anomaly - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality Occasional - Bowed diaphysis / diaphyses / long bones - Lordosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Osteoarthritis - Rachidian / spine canal stenosis		Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies - Syndactyly of fingers / interdigital palm 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 - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - 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 - Low set ears / posteriorly rotated ears - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia