Possible Causes for brachydactyly 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] 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] 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] A skeletal dysplasia usually manifesting in the second year of life and characterized by moderate to severe disproportionate short stature, deformity of the lower limbs, brachydactyly [uniprot.org] 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] 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] 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] 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] […] long bones with mild metaphyseal flare (especially femora and tibiae) Narrowing of or failure to widen in the inferior lumbar interpedicular distances Mild to moderate brachydactyly [slideshare.net] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] 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] […] 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 type a3[?] Brachydactyly type A5 nail dysplasia[?] Brachydactyly type a6[?] Brachydactyly type a7[?] Brachydactyly type B[?] Brachydactyly type C[?] [encyclopedia.kids.net.au] 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] 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] 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] 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] Systemic Manifestation of Weill Marchesani Syndrome 1- Short stature. 2- Joint stiffness. 3- Brachydactyly. Short fingers and Toes. 4- Mental Retardation. [webeyeclinic.com] 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] 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] 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] 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] 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] Mucopolysaccharidosis Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…] [ncbi.nlm.nih.gov] Mucopolysaccharidosis Type 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] 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]
