TaoMedAI/RareMedData huggingface dataset:
Spondyloepimetaphyseal dysplasia, Handigodu type (ORPHA:99642)
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.
Spondyloepimetaphyseal dysplasia, Irapa type (ORPHA:93351)
Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.
Epidemiology
The syndrome has been described among Venezuelan Indians of the Yukpa (Irapa) tribe and three sibs from a Mexican mestizo family.
Etiology
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

                            Last update: 
                            November 2009
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (ORPHA:370015)
A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses.
Spondyloepimetaphyseal dysplasia, Maroteaux type (ORPHA:263482)
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.
Spondyloepimetaphyseal dysplasia, matrilin-3 type (ORPHA:156728)
A rare primary bone dysplasia due to matrilin-3 varaints and characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
Spondyloepimetaphyseal dysplasia, Missouri type (ORPHA:93356)
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
Epidemiology
The syndrome has been described in a large Missouri (US) kindred with 14 affected members in 4 generations.
Clinical description
Though some spontaneous improvement of the skeletal defects may occur in adolescence, the affected individuals remained shorter than their age-matched unaffected sibs. Predisposition deformities to osteoarthritis (especially of the knees) have been noted.
Etiology
This condition is caused by mutation in the MMP13 gene (locus 11q22.3) and transmitted in an autosomal dominant manner.

                            Last update: 
                            November 2009
Spondyloepimetaphyseal dysplasia, PAPSS2 type (ORPHA:93282)
Spondyloepimetaphyseal dysplasia (SEMD), Pakistani type is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence.
Epidemiology
The syndrome has been described a large eight-generation consanguineous Pakistani family.
Clinical description
Radiographic features include delayed epiphyseal ossification at the hips and knees, platyspondyly with irregular end plates and narrowed joint spaces, diffuse early osteoarthritic changes (in the spine and hands), mild brachydactyly, and mild metaphyseal abnormalities (predominantly involving the hips and knees).
Etiology
SEMD, Pakistani type is caused by mutations in the PAPSS2 gene (10q22-q24). Mutations in the same gene have been identified in a 14.5-year-old Turkish girl with premature pubarche, hyperandrogenic anovulation, short stature and skeletal dysplasia.
Genetic counseling
SEMD, Pakistani type is inherited in an autosomal recessive manner.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondyloepimetaphyseal dysplasia, Shohat type (ORPHA:93352)
Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.
Epidemiology
The syndrome has been described in three members of a Jewish family of Iraqi origin and one Mexican boy.
Clinical description
The long bone changes in adolescence show general metaphyseal irregularities and significant epiphyseal ossification delay.
Etiology
Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.

                            Last update: 
                            November 2009
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome (ORPHA:168451)
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome is a rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features.
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome (ORPHA:168443)
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome is a rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings.
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (ORPHA:93358)
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.
Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.
Epidemiology
The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected.
Clinical description
Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial features, hypertelorism, eye abnormalities (nystagmus, congenital cataracts, glaucoma, retinal detachment), decreased hearing, and characteristic radiologic findings (flattened vertebral bodies, flat acetabular roof, delayed ossification of the femoral heads with degenerative changes). Decreased joint mobility and arthritis often develop early in life. Intelligence is usually unaffected.
Etiology
SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2).
Genetic counseling
The inheritance is autosomal dominant.

                            Last update: 
                            September 2009
Spondyloepiphyseal dysplasia tarda, Kohn type (ORPHA:163665)
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Epidemiology
The syndrome has been described in three daughters born to healthy consanguineous parents.
Clinical description
The skeletal disorder usually manifests in late childhood. Typical radiographical features include platyspondyly, abnormal lumbar vertebrae and degenerative large joint changes.
Genetic counseling
Autosomal recessive transmission has been suggested.

                            Last update: 
                            September 2009
Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Epidemiology
The X-linked variant of the disease is most common, with an estimated prevalence of 1 in 150,000-200,000.
Clinical description
Patients may have normal body proportions at birth. The condition typically manifests around puberty with a short neck, scoliosis or thoracic kyphosis, lumbar hyperlordosis, and early-onset progressive osteoarthritis of the hips and knees. Many patients achieve an adult height of more than 153 cm and true dwarfism may not be present. Radiographic findings appear prior to puberty and may include multiple epiphyseal abnormalities, flattened vertebral bodies, narrow disc spaces, hypoplastic odontoid process, short femoral neck, and coxa vara.
Etiology
The X-linked recessive type is caused by mutations in the TRAPPC2 gene (locus Xp22.2-p22.1).
Genetic counseling
SEDT may be transmitted as an X-linked recessive, autosomal recessive or autosomal dominant trait.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondyloepiphyseal dysplasia with metatarsal shortening (ORPHA:137678)
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
Epidemiology
To date, fewer than 15 families have been reported worldwide.
Clinical description
The first clinical signs appearing in childhood are broad knees and flat nasal bridge, followed in late childhood and adolescence by short 3rd and 4th metatarsals (not always present), joint pain in knees and hips and later osteoarthritis of the spine, shoulder, hips, and knees. Shortening of the metacarpals may also be present. Vertebral abnormalities include mild platyspondyly, irregular end plates, and reduced intervertebral distances. Stature is within average range. Brachydactyly is restricted to metatarsals III, IV and, more variably, V. Progressive hearing loss may be associated and typically starts in early adulthood, although subclinical hearing impairment for high frequencies may be detected in children.
Etiology
The disorder is due to the R275C mutation in the geneCOL2A1 (12q13.11).
Diagnostic methods
Disorder is suspected based on family history and clinical presentation, but this may be difficult to detect in early childhood. Skeletal radiographs showing platyspondyly and shortened metatarsals and metacarpals may be helpful in the diagnosis work up. Diagnosis is confirmed by genetic testing for the R275C mutation in COL2A1.
Differential diagnosis
Disorders with early-onset osteoarthritis and polyarticular arthritis form the main differential diagnoses and include juvenile idiopathic osteoarthritis and mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis. Whilst COL2A1 mutations are involved in a spectrum of skeletal dysplasias, this specific disorder is typically distinguished by the absence of cleft palate, ophthalmologic pathology and short stature.
Antenatal diagnosis
Genetic prenatal diagnosis is possible when the mutation has been previously identified in a family member.
Genetic counseling
The pattern of inheritance is autosomal dominant. The risk of transmission to offspring is 50% and there is full disease penetrance.
Management and treatment
Treatment is symptomatic and frequently includes hip replacement (often by the age of 40), hearing aids for hearing loss, and anti-rheumatic medication for osteoarthritis. Appropriate surveillance of hearing loss and progression of osteoarthritis is required.
Prognosis
The disorder is associated with early-onset, progressive arthritis that is typically associated with significant joint pain and restricted mobility that can adversely impact quality of life. Early joint replacements are often recommended. Longevity does not appear to be different to that of the general population.

                            Last update: 
                            January 2020


                            - Expert reviewer(s): 
                            Dr Lindsay BURRAGE
Spondyloepiphyseal dysplasia, Kimberley type (ORPHA:93283)
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
Epidemiology
It has been described in one multigenerational South African family of English white descent.
Clinical description
The main clinical features may include proportionate short stature (<5th percentile for age), stocky habitus and early-onset progressive osteoarthropathy of the weight-bearing joints. Radiographical features are flattened vertebral bodies with sclerosis and prominent endplate irregularity and flattened femoral epiphyses.
Etiology
SEDK is caused by mutation in the aggrecan gene (AGC1, locus 15q26.1).
Genetic counseling
SEDK is transmitted as an autosomal dominant trait.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondyloepiphyseal dysplasia, MacDermot type (ORPHA:163668)
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.
Epidemiology
The syndrome has been described in a family in which females in four successive generations were affected.
Clinical description
Myopia and retinal detachment were present in adult life.
Genetic counseling
Autosomal dominant transmission has been suggested.

                            Last update: 
                            September 2009
Spondyloepiphyseal dysplasia, Reardon type (ORPHA:163662)
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.
Spondyloepiphyseal dysplasia, Stanescu type (ORPHA:459051)
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome (ORPHA:163654)
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome (ORPHA:163649)
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.
Epidemiology
The syndrome has been described in four Japanese sibs (three brothers and one sister born to nonconsanguineous parents).
Clinical description
Most clinical manifestations are evident at birth, but skeletal changes and cataracts may become evident during early childhood.
Genetic counseling
Autosomal recessive inheritance has been suggested.

                            Last update: 
                            September 2009
Spondylometaphyseal dysplasia, 'corner fracture' type (ORPHA:93315)
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Epidemiology
Less than 30 patients have been reported in the literature.
Clinical description
Tetralogy of Fallot and odontoid hypoplasia have been reported in single patients with this syndrome.
Etiology
Currently, there are no human genes associated with the disease.
Genetic counseling
Autosomal dominant inheritance has been suggested.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondylometaphyseal dysplasia, A4 type (ORPHA:168555)
Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.
Spondylometaphyseal dysplasia, Golden type (ORPHA:168544)
Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.
Spondylometaphyseal dysplasia, Kozlowski type (ORPHA:93314)
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.
Epidemiology
Prevalence is estimated at less than one in one million people.
Clinical description
Intelligence is usually normal.
Etiology
The syndrome is caused by a mutation in the TRPV4 gene (12q24.1) and is transmitted in an autosomal dominant manner.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
Epidemiology
This condition has been reported in five members of an Algerian family and one Polish boy; the patient reported by Schmidt et al. possibly had this disorder.
Etiology
Autosomal dominant inheritance has been suggested, but the causative gene has not yet been identified.

                            Last update: 
                            November 2009
Spondylometaphyseal dysplasia, Sedaghatian type (ORPHA:93317)
A rare neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
Epidemiology
Nine cases have been reported so far in patients of Iranian, Yemeni and Caucasian origin.
Clinical description
A lacy appearance of the iliac crests, long fibulae, abnormal tarsal bones, cardiac arrhythmia, and intracranial anomalies have been described. Intrauterine growth is normal. The majority of patients die in the first days of life with symptoms of cardiorespiratory insufficiency. Subacute myocarditis, cortical necrosis of kidneys, adrenal and pulmonary hemorrhage, absence of the corpus callosum and marked frontotemporal pachygyria have been found at autopsy.
Etiology
Etiology remains unknown.
Genetic counseling
Autosomal recessive inheritance has been suggested.

                            Last update: 
                            September 2009


                            - Expert reviewer(s): 
                            Dr Martine LE MERRER
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome (ORPHA:168552)
A rare, genetic, primary bone dysplasia disorder characterized by short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension, and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically, moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome (ORPHA:85167)
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.
Spondylometaphyseal dysplasia-corneal dystrophy syndrome (ORPHA:589435)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose.