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Metaphyseal dysplasia without hypotrichosis(CHHV; MDWH)

MedGen UID:
320444
Concept ID:
C1834821
Disease or Syndrome
Synonyms: Cartilage-hair hypoplasia variant, skeletal manifestations only; Cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency; Metaphyseal Dysplasia without Hypotrichosis (MDWH)
 
Gene (location): RMRP (9p13.3)
 
Monarch Initiative: MONDO:0009601
OMIM®: 250460
Orphanet: ORPHA1838

Disease characteristics

The cartilage-hair hypoplasia – anauxetic dysplasia (CHH-AD) spectrum disorders are a continuum that includes the following phenotypes: Metaphyseal dysplasia without hypotrichosis (MDWH). Cartilage-hair hypoplasia (CHH). Anauxetic dysplasia (AD). CHH-AD spectrum disorders are characterized by severe disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities. Other findings include joint hypermobility, fine, silky hair, immunodeficiency, anemia, increased risk for malignancy, gastrointestinal dysfunction, and impaired spermatogenesis. The most severe phenotype, AD, has the most pronounced skeletal phenotype, may be associated with atlantoaxial subluxation in the newborn, and may include cognitive deficiency. The clinical manifestations of the CHH-AD spectrum disorders are variable, even within the same family. [from GeneReviews]
Authors:
Outi Mäkitie  |  Svetlana Vakkilainen   view full author information

Additional description

From OMIM
Metaphyseal dysplasia without hypotrichosis (MDWH) is a rare autosomal recessive skeletal dysplasia. Patients present in childhood with isolated chondrodysplasia. Hair is normal in most patients. Some patients develop later-onset extraskeletal manifestations including immunodeficiency and malignancy (summary by Vakkilainen et al., 2020). Mutations in RMRP also cause 2 other skeletal dysplasias, anauxetic dysplasia-1 (ANXD1; 607095) and cartilage-hair hypoplasia (CHH; 250250), which, although more severe, share some features with MDWH.  http://www.omim.org/entry/250460

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Metaphyseal irregularity
MedGen UID:
325478
Concept ID:
C1838662
Finding
Irregularity of the normally smooth surface of the metaphyses.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Metaphyseal striations
MedGen UID:
376512
Concept ID:
C1849081
Finding
Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis).
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Metaphyseal cupping of metacarpals
MedGen UID:
343284
Concept ID:
C1855171
Finding
Metaphyseal cupping affecting the metacarpal bones.
Cone-shaped epiphyses of the phalanges of the hand
MedGen UID:
347156
Concept ID:
C1859480
Finding
A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx.
Abnormal pelvic girdle bone morphology
MedGen UID:
866545
Concept ID:
C4020847
Anatomical Abnormality
An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs.
Abnormality of the vertebral column
MedGen UID:
892426
Concept ID:
C4021789
Anatomical Abnormality
Any abnormality of the vertebral column.
Metaphyseal dysplasia
MedGen UID:
1677924
Concept ID:
C5194606
Disease or Syndrome
The presence of dysplastic regions in metaphyseal regions.
Abnormal facial shape
MedGen UID:
98409
Concept ID:
C0424503
Finding
An abnormal morphology (form) of the face or its components.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Vakkilainen S, Costantini A, Taskinen M, Wartiovaara-Kautto U, Mäkitie O
J Med Genet 2020 Jan;57(1):18-22. Epub 2019 Aug 14 doi: 10.1136/jmedgenet-2019-106131. PMID: 31413121Free PMC Article
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A
Am J Hum Genet 2007 Sep;81(3):519-29. Epub 2007 Aug 6 doi: 10.1086/521034. PMID: 17701897Free PMC Article
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A
Clin Genet 2002 Feb;61(2):146-51. doi: 10.1034/j.1399-0004.2002.610210.x. PMID: 11940090

Diagnosis

Vakkilainen S, Costantini A, Taskinen M, Wartiovaara-Kautto U, Mäkitie O
J Med Genet 2020 Jan;57(1):18-22. Epub 2019 Aug 14 doi: 10.1136/jmedgenet-2019-106131. PMID: 31413121Free PMC Article
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A
Am J Hum Genet 2007 Sep;81(3):519-29. Epub 2007 Aug 6 doi: 10.1086/521034. PMID: 17701897Free PMC Article
Bonafé L, Schmitt K, Eich G, Giedion A, Superti-Furga A
Clin Genet 2002 Feb;61(2):146-51. doi: 10.1034/j.1399-0004.2002.610210.x. PMID: 11940090
Verloes A, Pierard GE, Le Merrer M, Maroteaux P
J Med Genet 1990 Nov;27(11):693-6. doi: 10.1136/jmg.27.11.693. PMID: 2277385Free PMC Article

Prognosis

Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A
Am J Hum Genet 2007 Sep;81(3):519-29. Epub 2007 Aug 6 doi: 10.1086/521034. PMID: 17701897Free PMC Article

Clinical prediction guides

Vakkilainen S, Costantini A, Taskinen M, Wartiovaara-Kautto U, Mäkitie O
J Med Genet 2020 Jan;57(1):18-22. Epub 2019 Aug 14 doi: 10.1136/jmedgenet-2019-106131. PMID: 31413121Free PMC Article
Thiel CT, Mortier G, Kaitila I, Reis A, Rauch A
Am J Hum Genet 2007 Sep;81(3):519-29. Epub 2007 Aug 6 doi: 10.1086/521034. PMID: 17701897Free PMC Article

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