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Hypochondroplasia
1 OMIM reference -
1 associated gene
41 connected diseases
21 signs/symptoms
Disease Type of connection
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Giant cell glioblastoma
Gliosarcoma
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Isolated NADH-CoQ reductase deficiency
Monomelic amyotrophy
Pycnodysostosis
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Hypercalcemic tumoral calcinosis
Oculootodental syndrome
Otodental syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
(no synonyms)
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: 1-9 / 100 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR3 P22607134934
Very frequent
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

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
- Apnea / sleep apnea
- Bowed diaphysis / diaphyses / long bones
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteoarthritis
- Rachidian / spine canal stenosis
- Scoliosis