Namaqualand hip dysplasia(OSCDP)

MedGen UID:: 609409
•Concept ID:: C0432214
•: Disease or Syndrome

Synonyms:	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis; 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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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

Arthralgia

MedGen UID:: 13917
•Concept ID:: C0003862
•: Sign or Symptom

Joint pain.

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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.

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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)

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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).

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Osteoarthritis, hip

MedGen UID:: 14530
•Concept ID:: C0029410
•: Disease or Syndrome

Osteoarthritis of the hip joint.

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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.

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Schmorl node