Synonym(s): - Herva disease - LCCS1 - Multiple contracture syndrome, Finnish type
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare respiratory disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: (no data available)		External references: 1 OMIM reference - See 1 MeSH reference: C537194
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
GLE1	Q53GS7	603371

- Autosomal recessive inheritance
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypertelorism
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Micrognathia / retrognathia / micrognathism / retrognathism
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Short stature / dwarfism / nanism
- Stillbirth / neonatal death

- Cortical anomaly / thick bone cortical layer
- Cutaneous / amniotic bands / webbing of joints
- Elbow anomalies(excluding luxation)
- Low set ears / posteriorly rotated ears
- Mutiple fractures / bone fragility
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Polyhydramnios
- Restricted joint mobility / joint stiffness / ankylosis
- Rib structure anomalies
- Short neck
- Webbed neck / pterygium colli

- Abnormal vertebral size / shape