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Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans(SSOAOD)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: SSOAOD
SNOMED CT: Familial osteochondritis dissecans (715899006); Osteochondritis dissecans and short stature (715899006)
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): ACAN (15q26.1)
Monarch Initiative: MONDO:0100462
OMIM®: 165800
Orphanet: ORPHA251262


Patients with short sature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) exhibit a broad phenotypic spectrum involving short stature associated with advanced bone maturation and early-onset osteoarthritis, as well as mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disc disease and osteochondritis dissecans, which is characterized by separation of articular cartilage and subchondral bone from the articular surface. Phenotypes are highly variable even among patients within the same family, and there are no apparent genotype-phenotype correlations (summary by Dateki et al., 2017). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away. [from OMIM]

Additional description

From MedlinePlus Genetics
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.

A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.  https://medlineplus.gov/genetics/condition/familial-osteochondritis-dissecans

Clinical features

From HPO
MedGen UID:
Concept ID:
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Short thumb
MedGen UID:
Concept ID:
Congenital Abnormality
Hypoplasia (congenital reduction in size) of the thumb.
Broad hallux
MedGen UID:
Concept ID:
Visible increase in width of the hallux without an increase in the dorso-ventral dimension.
Short stature
MedGen UID:
Concept ID:
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).
Waddling gait
MedGen UID:
Concept ID:
Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck.
Osteoarthritis, hip
MedGen UID:
Concept ID:
Disease or Syndrome
Osteoarthritis of the hip joint.
Osteochondritis dissecans
MedGen UID:
Concept ID:
Disease or Syndrome
A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage.
Frontal bossing
MedGen UID:
Concept ID:
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Accelerated skeletal maturation
MedGen UID:
Concept ID:
An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Lumbar hyperlordosis
MedGen UID:
Concept ID:
An abnormal accentuation of the inward curvature of the spine in the lumbar region.
MedGen UID:
Concept ID:
Disease or Syndrome
An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.
Premature osteoarthritis
MedGen UID:
Concept ID:
Disease or Syndrome
Mandibular prognathia
MedGen UID:
Concept ID:
Abnormal prominence of the chin related to increased length of the mandible.
Depressed nasal bridge
MedGen UID:
Concept ID:
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Midface retrusion
MedGen UID:
Concept ID:
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

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