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Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
Features include: Short stature, Wide anterior fontanel, Low muscle tone (hypotonia), and Joint dislocation and 22 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 4 | Joint dislocation, Kyphoscoliosis, Delayed skeletal maturation |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Larsen-like osseous dysplasia-short stature syndrome.
1 publication has been identified in PubMed for Larsen-like osseous dysplasia-short stature syndrome. Research spans Review / Meta-Analysis (100%).
Lazea C (2024). [PMID: 38791606](https://pubmed.ncbi.nlm.nih.gov/38791606/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 4:54 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Larsen-like osseous dysplasia-short stature syndrome
3 |
Flat face, Macrocephaly, Cleft palate |
Muscles | 2 | Low muscle tone (hypotonia), Generalized hypotonia |
Ears | 2 | Recurrent otitis media, Conductive hearing impairment |
Arms and legs | 2 | Radial deviation of the 4th finger, Clinodactyly of the 5th finger |
Growth and development | 1 | Short stature |
Brain and nerves | 1 | Global developmental delay |