Autosomal recessive distal osteolysis syndrome

MedGen UID:: 376714
•Concept ID:: C1850143
•: Disease or Syndrome

Synonyms:	Osteolysis syndrome recessive; Osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance
SNOMED CT:	Autosomal recessive distal osteolysis syndrome (715487005); Distal osteolysis, short stature and intellectual disability (715487005); Petit Fryns syndrome (715487005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0009810
OMIM®:	259610
Orphanet:	ORPHA2776

Definition

Rare disorder with features of severe resorption of the hands and feet and absence of the distal and middle phalanges. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAutosomal recessive distal osteolysis syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Autosomal recessive distal osteolysis syndrome

Follow this link to review classifications for Autosomal recessive distal osteolysis syndrome in Orphanet.

Recent clinical studies

Diagnosis

Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Sewairi W, Assiri A, Patel N, Alhashem A, Alkuraya FS
Eur J Hum Genet 2016 Aug;24(8):1220-2. Epub 2016 Jan 6 doi: 10.1038/ejhg.2015.265. PMID: 26733286 Free PMC Article

New form of idiopathic osteolysis: nodulosis, arthropathy and osteolysis (NAO) syndrome.

Al-Mayouf SM, Majeed M, Hugosson C, Bahabri S
Am J Med Genet 2000 Jul 3;93(1):5-10. doi: 10.1002/1096-8628(20000703)93:1<5::aid-ajmg2>3.0.co;2-y. PMID: 10861675

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Prognosis

Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.

Luo DQ, Wang XZ, Meng Y, He DY, Chen YM, Ke ZY, Yan M, Huang Y, Chen DF
BMC Pediatr 2014 Oct 7;14:256. doi: 10.1186/1471-2431-14-256. PMID: 25286833 Free PMC Article

Al-Aqeel Sewairi syndrome, a new autosomal recessive disorder with multicentric osteolysis, nodulosis and arthropathy. The first genetic defect of matrix metalloproteinase 2 gene.

Al-Aqeel AI
Saudi Med J 2005 Jan;26(1):24-30. PMID: 15756348

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