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Items: 6

1.

Frontometaphyseal dysplasia 1

The X-linked otopalatodigital (X-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following: Otopalatodigital syndrome type 1 (OPD1). Otopalatodigital syndrome type 2 (OPD2). Frontometaphyseal dysplasia type 1 (FMD1). Melnick-Needles syndrome (MNS). Terminal osseous dysplasia with pigmentary skin defects (TODPD). In OPD1, most manifestations are present at birth; females can present with severity similar to affected males, although some have only mild manifestations. In OPD2, females are less severely affected than related affected males. Most males with OPD2 die during the first year of life, usually from thoracic hypoplasia resulting in pulmonary insufficiency. Males who live beyond the first year of life are usually developmentally delayed and require respiratory support and assistance with feeding. In FMD1, females are less severely affected than related affected males. Males do not experience a progressive skeletal dysplasia but may have joint contractures and hand and foot malformations. Progressive scoliosis is observed in both affected males and females. In MNS, wide phenotypic variability is observed; some individuals are diagnosed in adulthood, while others require respiratory support and have reduced longevity. MNS in males results in perinatal lethality in all recorded cases. TODPD, seen only in females, is characterized by a skeletal dysplasia that is most prominent in the digits, pigmentary defects of the skin, and recurrent digital fibromata. [from GeneReviews]

MedGen UID:
923943
Concept ID:
C4281559
Congenital Abnormality
2.

Multicentric osteolysis nodulosis arthropathy spectrum

Multicentric osteolysis nodulosis and arthropathy (MONA) is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Other manifestations include coarse facies, pigmented skin lesions, cardiac defects, and corneal opacities. Onset is usually between ages six months and six years (range: birth to 11 years). [from GeneReviews]

MedGen UID:
342428
Concept ID:
C1850155
Disease or Syndrome
3.

Bethlem myopathy 1B

Bethlem myopathy-1 (BTHLM1) is a congenital muscular dystrophy characterized by proximal muscle weakness and a combination of distal and proximal flexion joint contractures. The age at onset is highly variable, ranging from infancy to adulthood, and there is intrafamilial variability. Muscle biopsy may show myopathic and dystrophic features; serum creatine kinase is elevated. The progression is slow and ambulation is usually retained into adulthood (summary by Butterfield et al., 2013; Scacheri et al., 2002). For a discussion of genetic heterogeneity of Bethlem myopathy, see BTHLM1A (158810). [from OMIM]

MedGen UID:
1859128
Concept ID:
C5935580
Disease or Syndrome
4.

Leri pleonosteosis

Leri pleonosteosis is an autosomal dominant skeletal disorder characterized by flexion contractures of the interphalangeal joints, limited movement of multiple joints, and short, broad metacarpals, metatarsals, and phalanges. Additional features may include chronic joint pain, short stature, bony overgrowths, spinal cord compression, scleroderma-like skin changes, and blepharophimosis. The clinical features overlap with several other musculoskeletal conditions, including Myhre syndrome (MYHRS; 139210) and geleophysic dysplasia (GPHYSD1; 231050) (summary by Banka et al., 2015). [from OMIM]

MedGen UID:
331978
Concept ID:
C1835450
Disease or Syndrome
5.

Intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism

MedGen UID:
342889
Concept ID:
C1853480
Disease or Syndrome
6.

Interphalangeal joint contracture of finger

Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. [from HPO]

MedGen UID:
867413
Concept ID:
C4021784
Anatomical Abnormality

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