ODCs

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1 OMIM reference -
1 associated gene
41 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 18

Thanatophoric dysplasia type 1

1 OMIM reference -
1 associated gene
42 signs/symptoms

Achondroplasia

Thanatophoric dysplasia type 1

FGFR3

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	FGFR3

Citations in the biomedical literature:

Achondroplasia		Thanatophoric dysplasia type 1
	Synonym(s): (no synonyms)		Synonym(s): - TD1 - Thanatophoric dwarfism type 1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: neonatal/infancy Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: D000130		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Acanthosis nigricans - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Depressed nasal bridge - Dilated cerebral ventricles without hydrocephaly - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - Hydrocephaly - Hypotonia - Kyphosis - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rhizomelic micromelia - Short hand / brachydactyly - Short stature / dwarfism / nanism

Achondroplasia		Thanatophoric dysplasia type 1
	Very frequent - Anomalies of the ribs - Anteverted nares / nostrils - Chronic / relapsing otitis - Genu varum - Lordosis Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Abnormal vertebral size / shape - Apnea / sleep apnea - Conductive deafness / hearing loss - Elbow anomalies(excluding luxation) - Enlarged diaphysis / diaphyses - Generalized obesity - Hyperextensible joints / articular hyperlaxity - Hyperhidrosis / increased sweating - Intrauterine growth retardation - Long rib cage / thorax - Mid-facial hypoplasia / short / small midface Occasional - Collapse / sudden death / cardiac arrest / cardiorespiratory arrest - Death in infancy - Elbow dislocation - Elocution disorders / dysarthria / dysphonia - Rachidian / spine canal stenosis - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia		Very frequent - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat face - Intellectual deficit / mental / psychomotor retardation / learning disability - Loose skin / skin relaxation / excess skin / creases - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacroiliac joints anomalies - Short limbs / micromelia / brachymelia - Short rib cage / thorax - Small face - Stillbirth / neonatal death - Trident hand / split hand / abnormal median ray Frequent - Hearing loss / hypoacusia / deafness - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Increased nuchal translucency - Polyhydramnios - Proptosis / exophthalmos - Rippled skin Occasional - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Cloverleaf skull - Patent ductus arteriosus - Renal / kidney anomalies - Seizures / epilepsy / absences / spasms / status epilepticus