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Achondrogenesis type 1A
1 OMIM reference -
1 associated gene
12 connected diseases
28 signs/symptoms
Disease Type of connection
Familial retinoblastoma
Monosomy 13q14
Unilateral retinoblastoma
Peripheral resistance to thyroid hormones
17p13.3 microduplication syndrome
Alternating hemiplegia of childhood
Distal 17p13.3 microdeletion syndrome
Familial or sporadic hemiplegic migraine
Familial partial lipodystrophy due to AKT2 mutations
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Miller-Dieker syndrome
Acute promyelocytic leukemia
Synonym(s):
- Achondrogenesis, Houston-Harris type
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536015
Gene symbol UniProt reference OMIM reference
TRIP11 Q15643604505
Very frequent
- Abnormal / absent ossification
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excess nuchal skin without pterygium colli
- Flat face
- Frontal bossing / prominent forehead
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Short / small nose
- Stillbirth / neonatal death

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Mutiple fractures / bone fragility
- Polyhydramnios
- Rib structure anomalies
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Umbilical hernia

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma