Severe Brachydactyly Causes & Reasons

Neu Starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Hi, I'm Symptoma.

Severe Brachydactyly Symptom Checker: Possible causes include Metaphyseal Acroscyphodysplasia. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Possible Causes

Metaphyseal Acroscyphodysplasia

The main clinical features are severe growth retardation, micromelia predominating in the lower limbs, knee flexion, and severe brachydactyly. [ncbi.nlm.nih.gov]

[…] in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes and specific radiologic features, cup-shaped distal femoral metaphysis [pure.unipa.it]

Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement [ncbi.nlm.nih.gov]

Show info

Acrodysostosis

A 3.5-year-old boy presented with short stature, midfacial hypoplasia, severe brachydactyly, developmental delay, and behavioural problems. [ncbi.nlm.nih.gov]

Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations [ncbi.nlm.nih.gov]

(OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly [iofbonehealth.org]

Show info

Tricho-rhino-phalangeal Syndrome

brachydactyly. [ncbi.nlm.nih.gov]

This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe brachydactyly and sparse [ncbi.nlm.nih.gov]

TRPS III Severe end of TRPS I Additional features : More severe brachydactyly and short stature. References & Further reading Momeni P, et al. [genetics4medics.com]

Show info

Brachydactyly

Severe brachydactyly. In this case the patient requires surgical reconstruction to improve hand function. [cirugiamanoinfantil.com]

Autosomal dominant brachydactyly (BD) is a skeletal disorder with several subtypes, including brachydactyly type A1 (BDA1) and brachydactyly type B1 (BDB1). [ncbi.nlm.nih.gov]

[…] recessive brachydactyly. [ncbi.nlm.nih.gov]

Show info

Anauxetic Dysplasia

brachydactyly. [ncbi.nlm.nih.gov]

[…] morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe [ncbi.nlm.nih.gov]

Show info

Cystitis

The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal [ncbi.nlm.nih.gov]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

Show info

Metabolic Syndrome

The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. [ncbi.nlm.nih.gov]

[…] with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly [ncbi.nlm.nih.gov]

Show info

Brachydactyly of Fingers

Severe brachydactyly. In this case the patient requires surgical reconstruction to improve hand function. [cirugiamanoinfantil.com]

The majority of types of isolated brachydactyly are inherited as autosomal dominant conditions. There are several types of Brachydactyly. [streetdirectory.com]

Brachydactyly with the same frequency is found in both sexes; the prevalence in the population - 1.5: 100000. traumatology and orthopedics are several types of brachydactyly [medicalformat.com]

Show info

Osteoarthritis

Only the mother was hard of hearing, and only her children had brachydactyly of the fourth digit. [ncbi.nlm.nih.gov]

The index patient, her mother and her three brothers had severe coxarthrosis, in some cases requiring surgery. [ncbi.nlm.nih.gov]

Show info

Cystocele

The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal [ncbi.nlm.nih.gov]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

Show info

X-Linked Spondyloepimetaphyseal Dysplasia

The main clinical features are severe short trunked dwarfism, brachydactyly, normal facies, and normal intelligence. [ncbi.nlm.nih.gov]

Definition A X-linked recessive bone disease characterized by severe short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone [uniprot.org]

[…] short-trunk dwarfism, brachydactyly, metaphyseal flaring of lower extremities, short and broad long bone diaphyses, moderate platyspondyly, normal facies, and normal intelligence [malacards.org]

Show info

Growth Failure

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families [advbiores.net]

Show info

Treacher-Collins Syndrome

(OMIM phenotype number #101800 ) Acrodysostosis comprises a heterogeneous group of rare skeletal dysplasia that share characteristic features, such as severe brachydactyly [iofbonehealth.org]

brachydactyly, facial dysostosis and nasal hypoplasia, and different mutations (see also ACRDYS1). [iofbonehealth.org]

Abstract Acrodysostosis is characterized by distinctive facial features and severe brachydactyly. [jstage.jst.go.jp]

Show info

Familial Hypercholesterolemia Type 1

Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1 Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 [preventiongenetics.com]

[…] retardation syndrome 2 4 Hyperphosphatasia with Mental Retardation Syndrome 6 1 Hyperpigmentation with or without Hypopigmentation 1 Hyperprolactinemia 2 Hypertension and Brachydactyly [preventiongenetics.com]

Show info

Psychosomatic Disorder

Growth Restriction with Distinctive Facies SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly [rgd.mcw.edu]

Syndrome Schrander-Stumpel Theunissen Hulsmans Syndrome Seckel syndrome 1 Seckel Syndrome 3 Sener Syndrome Sensenbrenner syndrome Seres-Santamaria Arimany Muniz Syndrome Severe [rgd.mcw.edu]

Show info

Platyspondyly

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [read.qxmd.com]

Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly [sajr.org.za]

UniProtKB/Swiss-Prot : 76 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe [malacards.org]

Show info

Tricho-Rhino-Phalangeal Syndrome Type 3

brachydactyly. [orpha.net]

TRPS III Severe end of TRPS I Additional features : More severe brachydactyly and short stature. References & Further reading Momeni P, et al. [genetics4medics.com]

Clinical description TRPS types 1 and 3 are variants of a single disease, type 3 being at the severe end of the clinical spectrum, with very short stature and very severe [orpha.net]

Show info

Solid Ovarian Teratoma

Growth Restriction with Distinctive Facies SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly [rgd.mcw.edu]

Syndrome Schrander-Stumpel Theunissen Hulsmans Syndrome Seckel syndrome 1 Seckel Syndrome 3 Sener Syndrome Sensenbrenner syndrome Seres-Santamaria Arimany Muniz Syndrome Severe [rgd.mcw.edu]

Show info

Skeletal Dysplasia

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [ncbi.nlm.nih.gov]

Note absence of both fibulae (A), X-ray of both hands and feet showing severe brachydactyly and radial deviation of fingers (B, C). 46. [slideshare.net]

Their mother has mild rhizomelic shortening of the limbs, brachydactyly, and severe myopia. [ncbi.nlm.nih.gov]

Show info

Coxa Vara

The skeletal dysplasia is characterized by brachydactyly (in all 6); the five that are more severe have short stature that varies from mild to severe with progressive spinal [ncbi.nlm.nih.gov]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

Show info

Acromesomelic Chondrodysplasia with Genital Anomalies

The 16 year old girl, the offspring of a multiconsanguinous family, showed a severe form of limb malformation consisting of aplasia of the fibula, severe brachydactyly, ulnar [ncbi.nlm.nih.gov]

[…] limb malformation with brachydactyly. [genome.jp]

The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob- like fingers [pathwaycommons.org]

Show info

Hirschsprung Disease Type D-Brachydactyly Syndrome

The shortened fingers and toes of brachydactyly may cause you to have difficulty with grip. If the brachydactyly is severe in the feet, you may have trouble walking. [healthline.com]

Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1 Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 [preventiongenetics.com]

In some cases, if the brachydactyly is severe enough, it can limit the functioning of the hand or difficulty walking. [healthline.com]

Show info

Hydronephrosis

clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice [ncbi.nlm.nih.gov]

[…] craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly [ncbi.nlm.nih.gov]

Show info

Dilated Cardiomyopathy Type 2B

with the hands less severely affected than the feet. [ncbi.nlm.nih.gov]

Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1 Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 [preventiongenetics.com]

The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly [ncbi.nlm.nih.gov]

Show info

Prata-Libéral-Gonçalves Syndrome

and Mental Retardation Robin Sequence with Distinctive Facial Appearance and Brachydactyly Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly Sillence [rgd.mcw.edu]

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX Is also known as semd, x-linked; Related symptoms: Growth delay Brachydactyly Kyphosis X-linked recessive inheritance Severe [mendelian.co]

Dysplasia with Maxillary Hypoplasia and Brachydactyly Mononen-Karnes-Senac syndrome Multiple Synostoses Syndrome 1 Prata Libéral Gonçalves Syndrome Prolonged Bleeding Time, Brachydactyly [rgd.mcw.edu]

Show info

Familial Recurrent Peripheral Facial Palsy

[…] speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly syndrome Intellectual [se-atlas.de]

[…] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla [se-atlas.de]

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe [se-atlas.de]

Show info

Nivelon-Nivelon-Mabille Syndrome

brachydactyly). [ncbi.nlm.nih.gov]

[…] dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). [orpha.net]

The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia [ncbi.nlm.nih.gov]

Show info

Mental Retardation

We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. [ncbi.nlm.nih.gov]

[…] syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly [ncbi.nlm.nih.gov]

Show info

Isolated Congenital Sclerocornea

Microcephaly, microphthalmia, brachydactyly with clinodactyly, severe mental retardation, conductive hearing loss, skeletal anomalie. – Congenital primary aphakia: caused [bredagenetics.com]

In the patient described by Jaspers et al, 2007 (PMID: 17273966 ) there were microcephaly, bilateral microphthalmia, blepharophimosis, and several other abnormalities, including [bredagenetics.com]

Show info

Hereditary Hyperekplexia

Symptoms Growth: Severe micromelic dwarfism Neck: Short neck Thorax: Short and narrow upper thorax Limbs: Brachydactyly Neuro: Mental retardation Radiology: Severe vertebral [findzebra.com]

An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. [amp.pharm.mssm.edu]

[…] type E2) PTHR1 (Chondrodysplasia, Blomstrand type) PTPN11 (Leopard syndrome) PTPRC (Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [en.praenatal-medizin.de]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.