Brachydactyly, and Severe short stature

Diseases related with Brachydactyly and Severe short stature

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


Top matches:

Medium 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

Medium match ACROFACIAL DYSOSTOSIS, WEYERS TYPE


Acrofacialdysostosis, Weyers type (WAD) is a rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome (see this term), an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

ACROFACIAL DYSOSTOSIS, WEYERS TYPE Is also known as weyers acrodental dysostosis|acrodental dysostosis of weyers|weyers acrofacial dysostosis|curry-hall syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Brachydactyly
  • Abnormality of the dentition
  • Clinodactyly of the 5th finger


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, WEYERS TYPE

Medium match FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME


Fibular aplasia-complex brachydactyly syndrome is characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).

FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME Is also known as du pan syndrome

Related symptoms:

  • Short stature
  • Brachydactyly
  • Syndactyly
  • Severe short stature
  • Finger syndactyly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FIBULAR APLASIA-COMPLEX BRACHYDACTYLY SYNDROME

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Other less relevant matches:

Medium match SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

Medium 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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Medium 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

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium 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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Medium 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

Medium 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

Medium match ACROMICRIC DYSPLASIA


Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Related symptoms:

  • Short stature
  • Growth delay
  • Abnormal facial shape
  • Brachydactyly
  • Anteverted nares


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ACROMICRIC DYSPLASIA

Top 5 symptoms//phenotypes associated to Brachydactyly and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Short metacarpal Uncommon - Between 30% and 50% cases
Short phalanx of finger Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short palm Joint stiffness Mild short stature Delayed skeletal maturation Short neck Platyspondyly

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Limitation of joint mobility Lumbar hyperlordosis Abnormality of epiphysis morphology Rhizomelia Short long bone Disproportionate short-limb short stature Hoarse voice Growth delay Hyperlordosis Arthritis Anteverted nares Frontal bossing Midface retrusion High forehead Gait disturbance Arthralgia Micromelia Round face Waddling gait Skeletal dysplasia Scoliosis Ovoid vertebral bodies Irregular epiphyses Proportionate short stature Genu valgum Abnormality of tibia morphology Nail dystrophy Small nail Kyphosis Kyphoscoliosis Limb undergrowth Short femoral neck Small hand Barrel-shaped chest Spondyloepiphyseal dysplasia Narrow palpebral fissure Thickened skin Long eyelashes Thick lower lip vermilion Microdontia Hypoplasia of penis Blue sclerae Short toe Depressed nasal ridge Hypohidrosis Hypercholesterolemia Reduced number of teeth High pitched voice Truncal obesity Prematurely aged appearance Underdeveloped supraorbital ridges Short foot Abnormality of the elbow Abnormality of the skull Deep philtrum Hypoglycemia Delayed eruption of teeth Osteochondritis Dissecans Disproportionate short stature Fifth metacarpal with ulnar notch Constrictive median neuropathy Abnormality of femur morphology Abnormal eyebrow morphology Joint swelling Exostoses Abnormality of the knee Low back pain Decreased hip abduction Decreased nerve conduction velocity Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Intellectual disability Cone-shaped epiphysis Micrognathia Motor delay Abnormality of the endocrine system Delayed puberty Thick vermilion border Thoracolumbar scoliosis Bulbous nose Protein-losing enteropathy Diarrhea Alopecia Abdominal pain Long philtrum Short nose Hypothyroidism Intestinal polyp Peripheral edema Stiff neck Mucopolysacchariduria Nausea and vomiting Edema Malabsorption Nausea Postural instability Bowing of the long bones Chronic diarrhea Abnormal intestine morphology Cachexia Rheumatoid arthritis Malnutrition Scleroderma Vomiting Flexion contracture Thoracic kyphosis Low-set, posteriorly rotated ears Aplasia/Hypoplasia involving the nose Respiratory tract infection Narrow mouth Hypoplastic nasal bridge Low-set ears Macrocephaly Malar flattening Posteriorly rotated ears Mandibular prognathia Joint laxity Broad thumb Absent nasal cartilage Abnormality of the nail Relative macrocephaly Metaphyseal widening Mesomelia Short finger Spondyloepimetaphyseal dysplasia Broad hallux Vertebral clefting Functional respiratory abnormality Absent nasal bridge Limited elbow extension Delayed epiphyseal ossification Back pain Syndactyly Abnormal toenail morphology Thoracic dysplasia Overlapping fingers Conical tooth Advanced eruption of teeth Toenail dysplasia Single median maxillary incisor Abnormal oral frenulum morphology Prominent antihelix Finger syndactyly Postaxial foot polydactyly Bilateral single transverse palmar creases Short metatarsal Short middle phalanx of finger Abnormality of the hip bone Tarsal synostosis Narrow nasal bridge Fibular hypoplasia Synostosis of carpal bones Patellar dislocation Abnormality of the ulna Abnormality of the antihelix Facial cleft Fibular aplasia Seizures Clinodactyly Hypermetropia Abnormality of the metaphysis Radial deviation of finger Short thorax Spinal cord compression Increased vertebral height Proximal femoral metaphyseal irregularity Childhood-onset short-trunk short stature Abnormality of the dentition Hypoplastic toenails Clinodactyly of the 5th finger Polydactyly Protruding ear Anal atresia Postaxial polydactyly Hypodontia Nail dysplasia Postaxial hand polydactyly Hypotelorism Abnormality of the fingernails Abnormality of the thumb Deviation of finger Growth abnormality Multiple epiphyseal dysplasia Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Hip dysplasia Joint dislocation Genu varum Epiphyseal dysplasia Irregular vertebral endplates Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Sparse and thin eyebrow Small epiphyses Broad femoral neck Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Pain Short thumb Accelerated skeletal maturation Hypopigmented skin patches Hypopigmentation of the skin Carpal bone hypoplasia Malaligned carpal bone Aplastic/hypoplastic toenail Abnormality of the radius Aplasia of the middle phalanx of the hand Aplasia/Hypoplasia of the fibula Talipes equinovalgus Aplasia/Hypoplasia involving the metacarpal bones Absent toe Aplasia of metacarpal bones Aplasia of the fingers Deformed tarsal bones Global developmental delay Short distal phalanx of finger Microcephaly Anemia Talipes equinovarus Recurrent infections Proptosis Osteopenia Telecanthus Sparse hair Small for gestational age Talipes Internal notch of the femoral head



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