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Namaqualand hip dysplasia(OSCDP)

MedGen UID:
609409
Concept ID:
C0432214
Disease or Syndrome
Synonyms: OSCDP; Osteoarthritis with mild chondrodysplasia
SNOMED CT: Namaqualand hip dysplasia (254064009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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): COL2A1 (12q13.11)
 
Monarch Initiative: MONDO:0011496
OMIM®: 604864
Orphanet: ORPHA93279

Definition

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk. [from ORDO]

Clinical features

From HPO
Heberden node
MedGen UID:
6761
Concept ID:
C0018862
Finding
Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically.
Osteoarthritis, knee
MedGen UID:
98371
Concept ID:
C0409959
Disease or Syndrome
Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)
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).
Osteoarthritis of hip
MedGen UID:
14530
Concept ID:
C0029410
Disease or Syndrome
Osteoarthritis of the hip joint.
Joint stiffness
MedGen UID:
56403
Concept ID:
C0162298
Sign or Symptom
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Schmorl node
MedGen UID:
98380
Concept ID:
C0410632
Finding
A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.
Beaking of vertebral bodies
MedGen UID:
341588
Concept ID:
C1856599
Finding
Anterior tongue-like protrusions of the vertebral bodies.

Recent clinical studies

Diagnosis

Agenbag G, Vorster A, Julius S, Ramesar R, Beighton P
S Afr Med J 2020 Dec 14;111(1):57-60. doi: 10.7196/SAMJ.2020.v111i1.14561. PMID: 33404007
Learmonth ID, Christy G, Beighton P
Clin Orthop Relat Res 1987 May;(218):142-7. PMID: 3568474
Beighton P, Christy G, Learmonth ID
Am J Med Genet 1984 Sep;19(1):161-9. doi: 10.1002/ajmg.1320190116. PMID: 6496567

Prognosis

Beighton P, Christy G, Learmonth ID
Am J Med Genet 1984 Sep;19(1):161-9. doi: 10.1002/ajmg.1320190116. PMID: 6496567

Clinical prediction guides

Agenbag G, Vorster A, Julius S, Ramesar R, Beighton P
S Afr Med J 2020 Dec 14;111(1):57-60. doi: 10.7196/SAMJ.2020.v111i1.14561. PMID: 33404007

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