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Osteogenesis imperfecta, IIA 22(OI22)

MedGen UID:
1801631
Concept ID:
C5676943
Disease or Syndrome
Synonyms: Osteogenesis imperfecta, type 22; Osteogenesis imperfecta, type XXII
 
Gene (location): CCDC134 (22q13.2)
 
Monarch Initiative: MONDO:0030714
OMIM®: 619795

Definition

Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020). [from OMIM]

Clinical features

From HPO
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
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).
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Dentinogenesis imperfecta
MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Developmental dysplasia of dentin.
Recurrent fractures
MedGen UID:
42094
Concept ID:
C0016655
Injury or Poisoning
The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture).
Pseudoarthrosis
MedGen UID:
46175
Concept ID:
C0033785
Finding
A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or "false joint").
Slender long bone
MedGen UID:
331446
Concept ID:
C1833144
Finding
Reduced diameter of a long bone.
Thin bony cortex
MedGen UID:
318844
Concept ID:
C1833325
Finding
Abnormal thinning of the cortical region of bones.
Multiple prenatal fractures
MedGen UID:
377844
Concept ID:
C1853171
Finding
The presence of bone fractures in the prenatal period that are diagnosed at birth or before.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Reduced bone mineral density
MedGen UID:
393152
Concept ID:
C2674432
Finding
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Wormian bones
MedGen UID:
766814
Concept ID:
C3553900
Congenital Abnormality
The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium.
Multiple small vertebral fractures
MedGen UID:
870665
Concept ID:
C4025119
Injury or Poisoning
Abnormal blood phosphate concentration
MedGen UID:
867643
Concept ID:
C4022032
Finding
An abnormality of phosphate homeostasis or concentration in the body.
Abnormal circulating calcium concentration
MedGen UID:
868059
Concept ID:
C4022450
Finding
Any deviation from the normal concentration of calcium in the blood circulation.
Decreased circulating osteocalcin level
MedGen UID:
1625214
Concept ID:
C4531125
Finding
A reduced level of osteocalcin in the blood.

Recent clinical studies

Etiology

Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article

Prognosis

Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article

Clinical prediction guides

Thompson EM, Young ID, Hall CM, Pembrey ME
J Med Genet 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. PMID: 3612715Free PMC Article

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