Brachydactyly, and Kyphosis

Diseases related with Brachydactyly and Kyphosis

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


Top matches:

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

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 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

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Other less relevant matches:

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 TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER


TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER Is also known as you-hoover-fong syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about TELO2-RELATED INTELLECTUAL DISABILITY-NEURODEVELOPMENTAL DISORDER

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

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM


The Maroteaux type of mesomelic sysplasia is an autosomal recessive disorder characterized by severe dwarfism (height below 120 cm) with shortening of the middle and distal segments of the limbs. This condition is usually diagnosed at birth and becomes more obvious in the first 2 years of life. X-rays show short broad fingers, square flat feet, and shortening of the long bones (particularly the forearms). The radius is bowed; the ulna is shorter than the radius, and its distal end is occasionally hypoplastic. The skull is dolichocephalic and a shortness of the trunk, with decreased vertebral height and narrowing of the lumbar interpedicular distances, is consistently observed. Facial appearance and intelligence are normal (summary by Faivre et al., 2000).

ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM Is also known as st. helena dysplasia

Related symptoms:

  • Brachydactyly
  • Frontal bossing
  • Short nose
  • Severe short stature
  • Prominent forehead


SOURCES: OMIM MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE; AMDM

Top 5 symptoms//phenotypes associated to Brachydactyly and Kyphosis

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

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

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Short metacarpal Severe short stature Genu valgum Growth abnormality Hearing impairment Osteoarthritis Short femoral neck Waddling gait Spondyloepiphyseal dysplasia Flared metaphysis Abnormal joint morphology Prominent forehead Ovoid vertebral bodies Beaking of vertebral bodies Thoracolumbar kyphosis Irregular vertebral endplates Short neck

Rare Symptoms - Less than 30% cases


Thoracic kyphosis Frontal bossing Short metatarsal Pectus carinatum Short toe Spondylometaphyseal dysplasia Arthritis Gait disturbance Limitation of joint mobility Depressed nasal bridge Abnormality of the skeletal system Limited elbow extension Pain Stiff neck Coxa vara Enlarged joints Bowing of the long bones Disproportionate short stature Cleft palate Acromesomelia Joint stiffness Clinodactyly Hyperlordosis Bowing of the legs Short thorax Joint laxity Arthralgia Global developmental delay Microcephaly Intervertebral space narrowing Flat capital femoral epiphysis Arthropathy Periarticular calcification Narrow femoral neck Narrow iliac wings Blue sclerae Sensorineural hearing impairment Ankyloglossia Rotary nystagmus Cerebral visual impairment Ataxia Chorea Abnormality of movement Toe syndactyly Pectus excavatum Absent speech Syndactyly Visual impairment Feeding difficulties Spasticity Nystagmus Edema Chronic diarrhea Vomiting Radial bowing Pes planus Falls Lumbar hyperlordosis Short phalanx of finger Hypoplasia of the radius Cone-shaped epiphyses of the phalanges of the hand Long hallux Intestinal polyp Short nail Broad finger Broad metatarsal Broad phalanx Broad metacarpals Lower thoracic kyphosis Thoracolumbar interpediculate narrowness Short nose Peripheral edema Diarrhea Postural instability Alopecia Abdominal pain Hypothyroidism Nail dystrophy Nausea and vomiting Malabsorption Nausea Seizures Mucopolysacchariduria Abnormal intestine morphology Cachexia Rheumatoid arthritis Malnutrition Scleroderma Thoracolumbar scoliosis Protein-losing enteropathy Generalized hypotonia Spondyloepimetaphyseal dysplasia Intellectual disability Polydactyly Abnormality of epiphysis morphology Abnormality of the face Small hand Abnormality of the foot Narrow chest High forehead Delayed skeletal maturation Growth delay Hyposegmentation of neutrophil nuclei Mild short stature Knee flexion contracture Rhizomelia Postaxial polydactyly Camptodactyly Ventricular septal defect Epiphyseal dysplasia Limb undergrowth Dolichocephaly Joint hyperflexibility Abnormal form of the vertebral bodies Sprengel anomaly Vertebral wedging Hypermetropia Abnormality of the metaphysis Macrocephaly Radial deviation of finger Spinal cord compression Barrel-shaped chest Increased vertebral height Proximal femoral metaphyseal irregularity Childhood-onset short-trunk short stature Genu varum Hypoplasia of the odontoid process Mild myopia Back pain Myopia Difficulty walking Limb muscle weakness Unsteady gait Coxa valga Short long bone Metaphyseal irregularity Premature pubarche Vertebral fusion Spinal canal stenosis Trismus Hypoplastic pelvis Hypoplastic ilia Hip pain Muscle weakness Lumbar scoliosis Flat acetabular roof Irregular acetabular roof Disproportionate short-trunk short stature Flared iliac wings Abnormality of the rib cage Carpal bone hypoplasia Aplastic clavicle Caudal appendage Severe carpal ossification delay Lower limb undergrowth Irregular, rachitic-like metaphyses Hirsutism Amenorrhea Acne Secondary amenorrhea Delayed epiphyseal ossification Redundant skin on fingers



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