Brachydactyly, and Arthritis

Low match SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

• Brachydactyly
• Midface retrusion
• Osteoarthritis
• Short thumb
• Developmental stagnation

SOURCES: ORPHANET MENDELIAN

Low match FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY

Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

• Short stature
• Brachydactyly
• Skeletal dysplasia
• Short distal phalanx of finger
• Osteoarthritis

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

• Short stature
• Scoliosis
• Neoplasm
• Pain
• Brachydactyly

SOURCES: OMIM MENDELIAN

Low match HYPOCHONDROPLASIA

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

• Intellectual disability
• Scoliosis
• Brachydactyly
• Macrocephaly
• Skeletal dysplasia

SOURCES: ORPHANET MENDELIAN

Low match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

• Short stature
• Pain
• Brachydactyly
• Delayed skeletal maturation
• Joint hyperflexibility

SOURCES: OMIM ORPHANET MESH MENDELIAN

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

• Short stature
• Scoliosis
• Growth delay
• Depressed nasal bridge
• Brachydactyly

SOURCES: OMIM MESH ORPHANET MENDELIAN

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

• Short stature
• Brachydactyly
• Gait disturbance
• Severe short stature
• Arthralgia

SOURCES: ORPHANET OMIM MENDELIAN

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

• Short stature
• Abnormal facial shape
• Pain
• Depressed nasal bridge
• Brachydactyly

SOURCES: MESH ORPHANET OMIM MENDELIAN

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

• Hearing impairment
• Scoliosis
• Muscle weakness
• Pain
• Flexion contracture

SOURCES: OMIM ORPHANET MENDELIAN

Low match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

• Intellectual disability
• Micrognathia
• Abnormal facial shape
• Motor delay
• Brachydactyly

SOURCES: ORPHANET MENDELIAN