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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
21 signs/symptoms
Microform holoprosencephaly
Hypochondroplasia

CDON FGFR3
DISP1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
(0.73)
FGFR3



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Hypochondroplasia
FGFR3



Microform holoprosencephaly
Hypochondroplasia

Synonym(s):
- Microform HPE

Synonym(s):
(no synonyms)

Classification (Orphanet):
(no data available)
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: adult
Type of inheritance: multigenic/multifactorial
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
External references:
1 OMIM reference -
No MeSH references

Hypochondroplasia

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


Microform holoprosencephaly

(no data available)