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.

Brachydactyly Symptom Checker: Possible causes include Pseudohypoparathyroidism. 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

Pseudohypoparathyroidism

Familial brachydactyly. Brit. J. Radiol., 18 : 167. Brailsford, J. F. ( 1946 ). Familial brachydactyly with associated bilateral coxitis. Brit. J. Radiol., 19 : 127. [cambridge.org]

We encountered a 10-year-old girl with typical Albright's hereditary osteodystrophy with round face, short stature, brachydactyly, and obesity. [ncbi.nlm.nih.gov]

TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. [ncbi.nlm.nih.gov]

Show info

Kabuki Syndrome

The proposita had arched eyebrows, long and upward slanting palpebral fissures, cleft lip and palate, retromicrognathia, brachydactyly of hands and feet, stubby fingers, nail [ncbi.nlm.nih.gov]

Because of his peculiar face, brachydactyly V and fingertip pad, we diagnosed him as having Kabuki syndrome. [ncbi.nlm.nih.gov]

Brachydactyly, joint laxity and nail dysplasia were present in about 80% of the patients. [ncbi.nlm.nih.gov]

Show info

Pseudoachondroplasia

A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus [ncbi.nlm.nih.gov]

Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses [ncbi.nlm.nih.gov]

Brachydactyly, a knock knee, lumbar lordosis, scoliosis, ulnar deviation of the hands are other notable signs of this genetic disease. [symptoma.com]

Show info

Pseudopseudohypoparathyroidism

Familial brachydactyly. Brit. J. Radiol., 18 : 167. Brailsford, J. F. ( 1946 ). Familial brachydactyly with associated bilateral coxitis. Brit. J. Radiol., 19 : 127. [journals.cambridge.org]

Brachydactyly mental retardation syndrome (BDMR, OMIM #600430) is a rare genetic disorder caused by aberrations of chromosomal region 2q37 and characterized with AHO-like [degruyter.com]

Inherited brachydactyly and hypoplasia of the bones of the extremities. Ann. Hum. Genet., 26 : 201. Hefke, H. W. 1940 ). [journals.cambridge.org]

Show info

Pseudohypoparathyroidism Type 1A

In older children, brachydactyly was present in 60% of cases. Seizures occurred in older children (3 cases). Short stature was common at all ages. [ncbi.nlm.nih.gov]

In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome. [ncbi.nlm.nih.gov]

is a genetic disorder caused by heterozygous inactivating mutations in GNAS1, the gene encoding the alpha-chain of G(s), and is associated with short stature, obesity, brachydactyly [ncbi.nlm.nih.gov]

Show info

Hypochondroplasia

The following are characteristics consistent with this condition: Brachydactyly Short stature Micromelia Skeletal dysplasia Abnormality of femur Hypochondroplasia is transmitted [en.wikipedia.org]

After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. [ncbi.nlm.nih.gov]

Numerous features can accompany short stature - macrocephaly, a prominent forehead, brachydactyly involving both the hands and the feet, lumbar lordosis, and a limited range [symptoma.com]

Show info

Achondroplasia

[…] displacement of the midface and depressed nasal bridge Shortening of the arms with redundant skin folds on limbs Limitation of elbow extension Shortened fingers and toes (brachydactyly [rarediseases.org]

Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [ Ireland et al 2012 ]. [ncbi.nlm.nih.gov]

fingers are stubby Average adult height is about 4 feet tall Achondroplasia 1. [slideshare.net]

Show info

Saethre-Chotzen Syndrome

[…] are affected with a complex of skeletal malformations which variably includes peculiar asymmetric facies, delayed closure of large fontanels, brachycephaly, acrocephaly, brachydactyly [ncbi.nlm.nih.gov]

Saethre-Chotzen syndrome, a common autosomal dominant craniosynostosis in humans, is characterized by brachydactyly, soft tissue syndactyly and facial dysmorphism including [ncbi.nlm.nih.gov]

Abstract Saethre-Chotzen syndrome (acrocephalo-syndactyly type III, ACS III) is an autosomal dominant craniosynostosis with brachydactyly, soft tissue syndactyly and facial [ncbi.nlm.nih.gov]

Show info

Hirschsprung Disease Type D-Brachydactyly Syndrome

Name Hirschsprung disease-type D brachydactyly syndrome Ontological Reference MONDO:0016294 Name Hirschsprung disease-type D brachydactyly syndrome Ontological Reference MONDO [search.clinicalgenome.org]

Short fingers or toes 0001156 Hypoplastic fingernail Small fingernail Underdeveloped fingernail [ more ] 0001804 Short distal phalanx of the thumb Short outermost bone of [rarediseases.info.nih.gov]

If your child is born with Down syndrome, their risk for brachydactyly is higher. Women are more likely to develop brachydactyly than men. [healthline.com]

Show info

Fitzsimmons-McLachlan-Gilbert Syndrome

"Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons syndrome". [en.wikipedia.org]

[…] and cognitive impairment. 61 Armour CM...Boycott KM 19760657 2009 5 Spastic paraplegia, dysarthria, brachydactyly, and cone shaped epiphyses: confirmation of the Fitzsimmons [malacards.org]

Part A 2016 In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone… (More) Gail Mitchell Nursing science [semanticscholar.org]

Show info

Spondyloperipheral Dysplasia

[…] mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly [ncbi.nlm.nih.gov]

This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) [malacards.org]

[…] definitionSpondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly [malacards.org]

Show info

Fibrodysplasia Ossificans Progressiva

[…] intragenic deletion in a different BMP Type 1 receptor gene, BMP Receptor 1B/Activin-like kinase 6 (BMPR1B/ALK6), a gene associated with a variable spectrum of autosomal dominant brachydactyly [ncbi.nlm.nih.gov]

Over half of affected individuals also have shortened thumbs (brachydactyly). [clementiapharma.com]

Other diagnostic considerations are lymphoma, desmoids tumors, isolated congenital malformations, brachydactyly (isolated), and juvenile bunions Preventative measures In children [ncbi.nlm.nih.gov]

Show info

Aarskog-Scott Syndrome

(D) Patient 4 with widow's peak, midface hypoplasia, ptosis, clinodactyly, and brachydactyly. [dovemed.com]

The major signs of this X-linked condition are short stature, wide-set eyes (hypertelorism), shawl scrotum, and short fingers and toes (brachydactyly), all of them characterized [symptoma.com]

The three carrier females had a milder phenotype with widow's peak, short stature and brachydactyly. [doi.org]

Show info

Oculo-Osteo-Cutaneous Syndrome

Clinical: Short stature; brachydactyly; hypoplastic maxilla; scanty hair; hypopigmentation; mental retardation. McKusick VA. [esanatos.com]

[…] type a1 Brachydactyly type a2 Brachydactyly type a3 Brachydactyly type A5 nail dysplasia Brachydactyly type a6 Brachydactyly type a7 Brachydactyly type B Brachydactyly type [bioreference.net]

Brachydactyly Brachydactyly a – Brachydactyly s Brachydactyly absence of distal phalanges Brachydactyly anonychia Brachydactyly clinodactyly Brachydactyly dwarfism mental [en.wikipedia.org]

Show info

Dopamine Beta-Hydroxylase Deficiency

Lancet. 1987 Nov 21;2(8569):1172-5. Author information 1 Department of Internal Medicine I, University Hospital Dijkzigt, Erasmus University Rotterdam, Netherlands. Abstract A patient with severe orthostatic hypotension due to dopamine-beta-hydroxylase deficiency was treated with the unnatural aminoacid[…] [ncbi.nlm.nih.gov]

Show info

Brachydactyly

From Wikidata Jump to navigation Jump to search bone development disease characterized by short fingers and toes nonsyndromic brachydactyly brachydactyly isolated brachydactyly [wikidata.org]

Abstract Brachydactyly ("short digits") is a general term that refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized [ncbi.nlm.nih.gov]

For the majority of isolated brachydactylies and some syndromic forms of brachydactyly, the causative gene defect has been identified. [ncbi.nlm.nih.gov]

Show info

Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

Some causes may include: 1 Causes of Short Hallux : Acro-Renal-Ocular Syndrome Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction Brachydactyly Type A1 Brachydactyly [familydiagnosis.com]

C/Symphalangism-like pheno, Brachydactyly type A2 ESCO2 Roberts syndrome, SC phocomelia syndrome GDF5 Acromesomelic dysplasia, Hunter-Thompson, Brachydactyly type A2, Brachydactyly [genda.com.ar]

[…] polydactyly syndrome (disorder) Brachydactyly of toes Major Diagnostic Categories M.D.C MDC Category Not Assigned For This ICD Code Q72.8 Medicare Severity-Diagnosis Related [medicbind.com]

Show info

Bonnemann-Meinecke-Reich Syndrome

A7 Standard Brachydactylie B Standard Brachydactylie C Standard Brachydactylie D Standard Brachydactylie E Standard Brachydactylie Mohr wriedt Brachydactylie types B and [wikipedia.qwika.com]

Brachydactyly type a3[?] Brachydactyly type A5 nail dysplasia[?] Brachydactyly type a6[?] Brachydactyly type a7[?] Brachydactyly type B[?] Brachydactyly type C[?] [encyclopedia.kids.net.au]

Show info

Cartilage Hair Hypoplasia

The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers. [analesdepediatria.org]

fingers and toes Bowed femora and tibiae (present in 77%) Laxity of ligaments with hypermobility of joints (in 87%) Limited extension of the elbows (83%) Lumbar lordosis, [ncbi.nlm.nih.gov]

Physical examination showed a height of 62 cm ( 9.6 SD), weight of 8620 g ( 3.34 SD), shortening of upper and lower extremities, thick hands and short fingers. [analesdepediatria.org]

Show info

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 [mendelian.co]

distinctive brachydactyly, hydrocephaly, and microphthalmia, is related to brachydactyly and microphthalmia. [malacards.org]

UniProtKB/Swiss-Prot : 75 Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia: A disease characterized by chondrodysplasia, severe [malacards.org]

Show info

Marchesani-Weill Syndrome

Weill-Mar·che·sa·ni syn·drome ( vīl mahr-kā-sah'ne ), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive [medical-dictionary.thefreedictionary.com]

(D, E) The patient presented with short fingers and toes. [bmcophthalmol.biomedcentral.com]

brachycephaly Weill-Mar·che·sa·ni syn·drome ( vīl'mahr-kĕ-sah'nē sin'drōm ) Ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; recessive [medical-dictionary.thefreedictionary.com]

Show info

Tricho-rhino-phalangeal Syndrome

[…] including sparse hair, a "pear-shaped" nose, osteodysplasia with cone-shaped epiphyses, and autosomal dominant inheritance, but is distinguished by the presence of severe brachydactyly [ncbi.nlm.nih.gov]

fingers, known as brachydactyly) are sometimes described as having TRPS type III. [invitae.com]

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]

Show info

Brachydactyly of Fingers

Brachydactyly, or short fingers, is a different condition as there are the normal 5 digits with shortening of either the phalanges or metacarpals or both. [congenitalhand.wustl.edu]

It consists of short fingers (brachy-), which can be linked together (syn-of syndactyly). [cirugiamanoinfantil.com]

[ brachy- G. daktylos, finger] brachydactyly Abnormally short fingers or toes. [medical-dictionary.thefreedictionary.com]

Show info

Syndactyly

We compared the findings in our case with those of brachydactyly B, Fuhrmann syndrome and Haas-type syndactyly. [ncbi.nlm.nih.gov]

Brachydactyly ("short digits") refers to disproportionately short fingers and toes, and forms part of the group of limb malformations characterized by bone dysostosis. [blueprintgenetics.com]

MalaCards based summary : Brachydactyly-Syndactyly Syndrome, also known as brachydactyly-syndactyly-oligodactyly syndrome, is related to brachydactyly, type a4 and brachydactyly [malacards.org]

Show info

Autosomal-Recessive Robinow Syndrome

Interestingly, heterozygous mutations in ROR2 have recently been shown to give rise to autosomal dominant brachydactyly type B1 (BDB1). [ncbi.nlm.nih.gov]

[…] encodes a receptor tyrosine kinase (RTK) that participates in Wingless-type (Wnt) signaling, have been identified in two distinct skeletal disorders, dominantly inherited brachydactyly [oxfordmedicine.com]

Note characteristic fetal face (A), hypogenitalism (B) and brachydactyly of hands and feet (C, D) Ectrodactyly, split hand, cleft hand or lobster claw hand involves the deficiency [pinterest.de]

Show info

Robinow Syndrome

Abstract Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a distinct combination of phenotypic features [ncbi.nlm.nih.gov]

Type B1 brachydactyly is inherited as an autosomal dominant condition. [preventiongenetics.com]

Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). [ncbi.nlm.nih.gov]

Show info

Prata-Libéral-Gonçalves Syndrome

[…] term characterized by disproportionately short fingers and toes. [familydiagnosis.com]

Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones. [checkorphan.org]

The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). [malacards.org]

Show info

Gorlin Psaume Syndrome

Shealso had bilateral brachydactyly (Fig. 5). The rest ofher physical examination was normal. [docslide.us]

[…] median cleft or pseudocleft upper lip, micrognathia, downslanting palpebral fissures), abnormal hair/alopecia, evanescent facial milia, digital malformations in about 88% (brachydactyly [orpha.net]

Brachydactyly, syndactyly of varying degrees, and clinodactyly of the fifth finger are common. [pocketdentistry.com]

Show info

Mucopolysaccharidosis

Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops[…] [ncbi.nlm.nih.gov]

Show info

Mucopolysaccharidosis 2

Children usually develop joint contractures (stiff joints), kyphosis (a "hunchback" curve of the spine), and broad hands with short fingers. [encyclopedia.com]

[…] bones are also affected, with these children usually developing joint contractures (stiff joints), kyphosis (a specific type of curve to the spine), and broad hands with short [medical-dictionary.thefreedictionary.com]

fingers. [encyclopedia.com]

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.