Larsen-like syndrome

Preferred Label : Larsen-like syndrome;

CISMeF acronym : LRSL;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : LRSL;

Description : Pierquin et al. (1991) reported the cases of 2 unrelated children with similar clinical features, particularly facial dysmorphism and multiple joint dislocations, suggesting the diagnosis of Larsen syndrome (150250). Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monosomy 6p. Skin collagen showed a decreased alpha-1/alpha-2 chain ratio in type I collagen (see 120150). Pierquin et al. (1991) suggested that both patients had a mutation in a gene involved in collagen production which is located either on chromosome 1q or, more likely, on 6p. Chromosome 6 likewise came under suspicion in the family reported by James et al. (2003). The proband, a child with Larsen-like features and severe developmental delay, had an unbalanced translocation resulting in a distal 6p deletion and proximal trisomy 10q. The father and an unaffected older brother had a balanced form of the translocation, t(6;10)(p25;q25.2). James et al. (2003) suggested that the 2 translocation patients reported by Pierquin et al. (1991) and their patient supported the possibility of a locus responsible for a Larsen-like phenotype determined by genes in the distal 6p region. Their case had a more distal breakpoint, refining the potential critical region. *FIELD* RF 1. James, P. A.; Aftimos, S.; Oei, P.: Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p. Am. J. Med. Genet. 119A: 288-292, 2003. 2. Pierquin, G.; Van Regemorter, N.; Hayez-Delatte, (NI); Fourneau, C.; Bormans, J.; Foerster, M.; Damis, E.; Cremer-Perlmutter, N.; Lapiere, C. M.; Vamos, E.: Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome. Hum. Genet. 87: 587-591, 1991. *FIELD* CS Isolated cases;

Inheritance : Isolated cases;

Laboratory abnormalities : Abnormal karyotype in 3 patients involving distal 6p;

Prefixed ID : %608545;

Details

Origin ID

608545;

UMLS CUI

C1837884;

Currated CISMeF NLP mapping
- Larsen-Like syndrome [MeSH concept]
- Larsen-Like syndrome [MeSH Supplementary Concept]
- Larsen-like osseous dysplasia - short stature [ICD-11 More detail]
- Larsen-like osseous dysplasia, short stature syndrome (disorder) [SNOMED CT concept]
- Larsen-like osseous dysplasia-short stature syndrome [ORDO Disease]
HPO term(s)
- Absent nasal bridge [HPO term]
- Bipartite calcaneus [HPO term]
- Brachycephaly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly (4th and 5th fingers) [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Conductive hearing impairment [HPO term]
- Delayed skeletal maturation [HPO term]
- Dental malocclusion [HPO term]
- Flat face [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Isolated cases [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Prominent forehead [HPO term]
- Radial deviation of the 4th finger [HPO term]
- Recurrent otitis media [HPO term]
- Short stature [HPO term]
- Sporadic [HPO term]
- Talipes equinovarus [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Larsen-like osseous dysplasia-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Larsen-Like syndrome [MeSH Supplementary Concept]
- Larsen-Like syndrome [MeSH concept]
- Larsen-like osseous dysplasia-short stature syndrome [ORDO Disease]

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