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Parastremmatic dwarfism

MedGen UID:
Concept ID:
Congenital Abnormality
Synonym: Parastremmatic dysplasia
SNOMED CT: Parastremmatic dwarfism (722210007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Gene (location): TRPV4 (12q24.11)
Monarch Initiative: MONDO:0008196
OMIM®: 168400
Orphanet: ORPHA2646

Disease characteristics

Excerpted from the GeneReview: Autosomal Dominant TRPV4 Disorders
The autosomal dominant TRPV4 disorders (previously considered to be clinically distinct phenotypes before their molecular basis was discovered) are now grouped into neuromuscular disorders and skeletal dysplasias; however, the overlap within each group is considerable. Affected individuals typically have either neuromuscular or skeletal manifestations alone, and in only rare instances an overlap syndrome has been reported. The three autosomal dominant neuromuscular disorders (mildest to most severe) are: Charcot-Marie-Tooth disease type 2C. Scapuloperoneal spinal muscular atrophy. Congenital distal spinal muscular atrophy. The autosomal dominant neuromuscular disorders are characterized by a congenital-onset, static, or later-onset progressive peripheral neuropathy with variable combinations of laryngeal dysfunction (i.e., vocal fold paresis), respiratory dysfunction, and joint contractures. The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. Spondylometaphyseal dysplasia, Kozlowski type. Spondyloepiphyseal dysplasia, Maroteaux type. Parastremmatic dysplasia. Metatropic dysplasia. The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal deformity and involvement of the long bones and pelvis. In the mildest of the autosomal dominant TRPV4 disorders life span is normal; in the most severe it is shortened. Bilateral progressive sensorineural hearing loss (SNHL) can occur with both autosomal dominant neuromuscular disorders and skeletal dysplasias. [from GeneReviews]
Brett A McCray  |  Alice Schindler  |  Julie E Hoover-Fong, et. al.   view full author information

Clinical features

From HPO
Genu valgum
MedGen UID:
Concept ID:
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Severe short stature
MedGen UID:
Concept ID:
Disease or Syndrome
A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
MedGen UID:
Concept ID:
Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
MedGen UID:
Concept ID:
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Flexion contracture
MedGen UID:
Concept ID:
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
Bowing of the long bones
MedGen UID:
Concept ID:
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Short neck
MedGen UID:
Concept ID:
Diminished length of the neck.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVParastremmatic dwarfism
Follow this link to review classifications for Parastremmatic dwarfism in Orphanet.

Recent clinical studies


El-Matary W, Dalzell AM, Kokai G, Davidson JE
Eur J Pediatr 2007 Mar;166(3):265-8. Epub 2006 Aug 10 doi: 10.1007/s00431-006-0231-z. PMID: 16900309
Horan F, Beighton P
J Bone Joint Surg Br 1976 Aug;58(3):343-6. doi: 10.1302/0301-620X.58B3.956253. PMID: 956253
Sensenbrenner JA, Dorst JP, Hungerford DS
Birth Defects Orig Artic Ser 1974;10(12):424-9. PMID: 4461074
Campailla E, Martinelli B
Acta Univ Carol Med Monogr 1973;56:97-9. PMID: 4791787
Langer LO, Petersen D, Spranger J
Am J Roentgenol Radium Ther Nucl Med 1970 Nov;110(3):550-60. doi: 10.2214/ajr.110.3.550. PMID: 4992387

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