Brachydactyly, and Platyspondyly

Diseases related with Brachydactyly and Platyspondyly

In the following list you will find some of the most common rare diseases related to Brachydactyly and Platyspondyly that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL DOMINANT BRACHYOLMIA


Autosomal dominant brachyolmia is a relatively severe form of brachyolmia (see this term), a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.

AUTOSOMAL DOMINANT BRACHYOLMIA Is also known as brachyrachia|brachyolmia type 3|brachyolmia, autosomal dominant

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Short neck
  • Kyphosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT BRACHYOLMIA

Low match METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME


Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Osteoporosis
  • Short philtrum
  • Platyspondyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME

Low match SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Hypertelorism
  • Epicanthus
  • Brachydactyly
  • Ventriculomegaly
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18

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Other less relevant matches:

Low match REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA


Regressive spondylometaphyseal dysplasia is a rare, primary bone dysplasia characterized by mild short stature, rhizomelic shortening of the arms and legs, bowing of long bones with widened and irregular metaphyses, thoracolumbar kyphosis, and metacarpal shortening. A marked improvement of the radiologic skeletal features is typical. Pelger-Huet anomaly (i.e. dumbbell shape bilobed nuclei of neutrophils) is a characteristic hematological feature of this disease.

REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA Is also known as regressive spondylometaphyseal dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Flexion contracture
  • Brachydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about REGRESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA

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

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE


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.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE Is also known as spondylodysplasia and premature pubarche|semd, pakistani type|spondyloepimetaphyseal dysplasia, pakistani type

Related symptoms:

  • Short stature
  • Scoliosis
  • Brachydactyly
  • Gait disturbance
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, PAPSS2 TYPE

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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Low match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE


Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE Is also known as semd, aggrecan type

Related symptoms:

  • Short stature
  • Low-set ears
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE

Low match CZECH DYSPLASIA, METATARSAL TYPE


Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.

CZECH DYSPLASIA, METATARSAL TYPE Is also known as pseudorheumatoid dysplasia, progressive, with hypoplastic toes|spondyloepiphyseal dysplasia with precocious osteoarthritis|czech dysplasia, metatarsal type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Pain


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CZECH DYSPLASIA, METATARSAL TYPE

Low match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Top 5 symptoms//phenotypes associated to Brachydactyly and Platyspondyly

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Kyphosis Uncommon - Between 30% and 50% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Short neck Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Platyspondyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Short metacarpal Genu valgum Waddling gait Osteoarthritis Skeletal dysplasia Abnormal joint morphology Spondyloepiphyseal dysplasia Short femoral neck Flared metaphysis Irregular vertebral endplates Severe short stature

Rare Symptoms - Less than 30% cases


Macrocephaly Abnormality of the skeletal system Postaxial polydactyly Hyperlordosis Arthritis Rhizomelia Narrow chest Spondylometaphyseal dysplasia Stiff neck Thoracolumbar kyphosis Gait disturbance Limitation of joint mobility Thoracic kyphosis Coxa vara Growth abnormality Bowing of the legs Enlarged joints Arthralgia Pain Spondyloepimetaphyseal dysplasia Polydactyly Hearing impairment Short thorax Barrel-shaped chest Hypoplastic ilia Malnutrition Beaking of vertebral bodies Hypoplastic pelvis Rheumatoid arthritis Cachexia Abnormal intestine morphology Spinal canal stenosis Chronic diarrhea Bowing of the long bones Postural instability Hip pain Nausea Mild myopia Trismus Narrow iliac wings Malar flattening Difficulty walking Peripheral edema Muscle weakness Mucopolysacchariduria Protein-losing enteropathy Myopia Thoracolumbar scoliosis Joint stiffness Vertebral fusion Limb muscle weakness Unsteady gait Coxa valga Short long bone Back pain Metaphyseal irregularity Scleroderma Low-set ears Midface retrusion Flat capital femoral epiphysis Absent nasal cartilage Premature pubarche Proportionate short stature Irregular epiphyses Vertebral clefting Functional respiratory abnormality Absent nasal bridge Sensorineural hearing impairment Edema Cleft palate Narrow femoral neck Periarticular calcification Short toe Intervertebral space narrowing Short metatarsal Arthropathy Mesomelia Vomiting Malabsorption Lumbar hyperlordosis Posteriorly rotated ears Mandibular prognathia Joint laxity Nausea and vomiting Nail dystrophy Low-set, posteriorly rotated ears Broad thumb Diarrhea Hoarse voice Hypothyroidism Abdominal pain Abnormality of the nail Alopecia Relative macrocephaly Metaphyseal widening Short finger Disproportionate short-trunk short stature Lumbar scoliosis Syndactyly Osteoporosis of vertebrae Multiple small vertebral fractures Hypertelorism Epicanthus Ventriculomegaly Respiratory insufficiency Hydrocephalus Thin upper lip vermilion Short middle phalanx of the 5th finger Cleft lip Micromelia Oral cleft Intestinal malrotation Short ribs Polycystic kidney dysplasia Preaxial polydactyly Short middle phalanx of the 2nd finger Short 5th metacarpal Thoracic dysplasia Proximal femoral metaphyseal irregularity Clinodactyly Hypermetropia Limb undergrowth Abnormality of the metaphysis Radial deviation of finger Spinal cord compression Increased vertebral height Childhood-onset short-trunk short stature Thin bony cortex Osteoporosis Short philtrum Thin vermilion border Hypoplasia of the maxilla Convex nasal ridge Metaphyseal dysplasia Premature loss of teeth Cystic hygroma Hypoplastic ischia Lower limb undergrowth Caudal appendage Epiphyseal dysplasia Hypoplasia of the odontoid process Flat acetabular roof Flared iliac wings Abnormality of the rib cage Carpal bone hypoplasia Aplastic clavicle Irregular acetabular roof Abnormality of epiphysis morphology Severe carpal ossification delay Irregular, rachitic-like metaphyses Hirsutism Amenorrhea Acne Secondary amenorrhea Delayed epiphyseal ossification Genu varum Abnormality of the face Vertebral wedging Limited elbow extension Global developmental delay Microcephaly Ventricular septal defect Prominent forehead Camptodactyly Knee flexion contracture Mild short stature Ovoid vertebral bodies Small hand Hyposegmentation of neutrophil nuclei Growth delay Depressed nasal bridge Delayed skeletal maturation High forehead Pectus carinatum Abnormality of the foot Intestinal polyp



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