Brachydactyly: Causes & Reasons

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Possible Causes for Brachydactyly

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]

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]

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]

Pseudohypoparathyroidism

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]

Albright hereditary osteodystrophy (AHO) is described as an associated clinical entity with PHP, characterized by brachydactyly, subcutaneous ossifications, round face, short [ncbi.nlm.nih.gov]

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

The term "spondyloperipheral dysplasia" (SPD) has been applied to the unusual combination of platyspondyly and brachydactyly as observed in a small number of individuals. [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]

E-like) and brachymetatarsia of the four toes similar to brachydactyly E (Figure 3, 4 ). [ojrd.biomedcentral.com]

Oculo-Osteo-Cutaneous Syndrome

[…] 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]

Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type C Brachydactyly type E Brachydactyly types B and E combined Brachydactyly with hypertension [personalizedcause.com]

Acrootoocular Syndrome

[…] acromesomelic dysplasia, grebe type;amdg, achondrogenesis, type ii, formerly;chondrodysplasia, grebe type Related symptoms: Autosomal recessive inheritance Flexion contracture Brachydactyly [mendelian.co]

Type A2, With Microcephaly brachydactyly-syndactyly syndrome Brachymesomelia Renal Syndrome Brachymorphism-Onychodysplasia-Dysphalangism Syndrome brachyolmia-amelogenesis [rgd.mcw.edu]

[…] syndrome Craniofacial microsomia Craniofrontonasal dysplasia Craniomicromelic syndrome Cranio-orbito-ocular dysraphia syndrome Craniosynostosis with facial dysmorphism and brachydactyly [icdlist.com]

Oto-Spondylo-Megaepiphyseal Dysplasia

(without extraskeletal manifestations) These include the following conditions: Brachydactyly (multiple types A-E) Brachydactyly with anonychia Brachydactylies (with extraskeletal [emedicine.medscape.com]

Isolated Brachydactylies ; 72.1 Brachydactyly A1 ; 72.2 Brachydactyly B ; 72.3 Brachydactyly C ; 72.4 Brachydactyly D ; 72.5 Brachydactyly E ; 72.6 Brachydactyly, Christian [bookdepository.com]

　type　Al－A4型短指［趾］症Al－A4型 Brachydactyly　typeB 短指［趾］症B型 Brachydactyly　typeC 短指〔趾］症C型 Brachydactyly　typeD 短指［趾］症D型 Brachydactyly　typeE 短指［趾〕症E型 Pseudohypoparathyroidism （Albright [normanet.ne.jp]

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]

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]

Short fingers or toes 0001156 Brain stem compression 0002512 Flared metaphysis Flared wide portion of long bone 0003015 Generalized joint laxity Hypermobility of all joints [rarediseases.info.nih.gov]

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

Metaphyseal Chondrodysplasia Type Kaitila

The elder sibling was a 15-year-old girl with short fingers at birth. Later a delay in all motor milestones and a gradual loss of scalp hair were noticed. [indianpediatrics.net]

Heterozygous mutations in the CDMP1 gene may cause the autosomal dominant brachydactyly type C (Polin-kovsky et al. 1997). [rrnursingschool.biz]

finger Acne Epicanthus Hyperplasia of the maxilla Cognitive impairment Cortical irregularity Anterior concavity of thoracic vertebrae Serpentine fibula Flexion contracture [mendelian.co]

Wiedemann-Steiner Syndrome

[…] type A1C GDF5 Brachydactyly type A2 BMP2 Brachydactyly type A2 BMPR1B Brachydactyly type B1 ROR2 Brachydactyly type E1 HOXD13 Brachydactyly-mental retardation syndrome HDAC4 [centogene.com]

Brachydactyly-syndactyly syndrome Branchiooculofacial syndrome C syndrome Campomelic dysplasia Camptodactyly-arthropathy-coxa vara-pericarditis syndrome Camurati-Engelmann [qlinics.com]

Hyperactivity Autism Hyperlordosis Scoliosis High palate Gait ataxia Nemaline bodies Everted lower lip vermilion Skeletal muscle atrophy Congenital onset Hypertelorism Growth delay Brachydactyly [mendelian.co]

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]

Pallister-Killian Syndrome

Brachydactyly, small feet. GIT : Congenital diaphragmatic hernia in intestinal malrotation. References & Further reading Schinzel A. [genetics4medics.com]

[…] multiple congenital anomalies of fetus: craniofacial dysmorphies were oxycephaly, wide, flat nasal bridge, low-set malformed ears, high-arched palate, short webbed neck, brachydactyly [dx.doi.org]

Stuve-Wiedemann Syndrome

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]

Brachydactyly – Hypertension Syndrome Breast and Ovarian Cancer, Hereditary (HBOC) C Canavan Disease Carnitine-Acylcarnitine Translocase Deficiency Cerebral Arteriopathy [hfi-ivf.com]

[…] neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short [rarediseases.info.nih.gov]

Dermatosparaxis

Acrogeric hands, mallet finger(s), clinodactyly, brachydactyly. [patient.info]

fingers. [ncbi.nlm.nih.gov]

Additionally, people with EDS, dermatosparaxis type have problems with bones, such as short fingers and improperly closing fontanels. [sharecare.com]

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]

Pseudopseudohypoparathyroidism

She also exhibited a short stature, round face and brachydactyly with shortening of the metacarpal and metatarsal bones. [doi.org]

( 29429567 ) Benvenuto P....Attarian A. 2018 4 Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism [malacards.org]

1 Pseudopseudohypoparathyroidism: A Diagnostic Consideration in a Patient with Brachydactyly. ( 29429567 ) Benvenuto P....Attarian A. 2018 2 Novel Mutation in PTHLH Related [malacards.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]

In older children, moderate mental retardation, brachydactyly, afebrile seizures, short stature, and thyroid-stimulating hormone resistance are the most suggestive features [ncbi.nlm.nih.gov]

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]

Bencze 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]

[…] t Brachydactyly tibial hypoplasia Brachydactyly type A1 Brachydactyly type A2 Brachydactyly type A3 Brachydactyly type A5 nail dysplasia Brachydactyly type A6 Brachydactyly [wikidoc.org]

* Brachydactyly Brachydactyly a-Brachydactyly s * Brachydactyly absence of distal phalanges * Brachydactyly anonychia * Brachydactyly clinodactyly * Brachydactyly dwarfism [en.academic.ru]

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]

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]

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]

Muscular Dystrophy-Dystroglycanopathy Type C7

[…] type A1 Brachydactyly type A2 Brachydactyly type A4 Brachydactyly type A5 Brachydactyly type A6 Brachydactyly type A7 Brachydactyly type B Brachydactyly type B2 Brachydactyly [se-atlas.de]

[…] leukoencephalopathy with spheroids Familial avascular necrosis of the femoral head Microcephalic osteodysplastic primordial dwarfism type 2 Primary hyperoxaluria type 2 Brachydactyly [checkrare.com]

8p21.3 Osteogenesis imperfecta, type XIII 614856 112264 Autosomal recessive BMP2 20p12.3 {HFE hemochromatosis, modifier of} 235200 112261 Autosomal recessive BMP2 20p12.3 Brachydactyly [mnglabs.com]

Carpotarsal Osteochondromatosis

Brachydactyly type A4, Brachydactyly type A5, Brachydactyly type A6, Brachydactyly type A7, Brachydactyly type B, Brachydactyly type C, Brachydactyly type E, Brachydactyly [yumpu.com]

Type A1 AD Brachydactyly Type A2 AD Brachydactyly Type A3 Brachydactyly Type B AD Brachydactyly Type C AD Brachydactyly Type D AD Brachydactyly Type E AD Pseudohypoparathyroidism [gamuts.isradiology.org]

[…] type B AD +Brachydactyly type C AD + 21q11 CDMP1 Cartilage-derivedmorphogenic pro-tein 1AD 12q24Brachydactyly type D AD +Brachydactyly type E AD Pseudohypoparathyroidism [documents.tips]

Aarskog-Scott Syndrome

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

Aarskog-Scott syndrome [OMIM 100050] is a predominantly X-linked disorder that is phenotypically characterized by short stature, craniofacial dysmorphisms, brachydactyly and [ncbi.nlm.nih.gov]

Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant [ncbi.nlm.nih.gov]

Bonnemann-Meinecke-Reich Syndrome

Dopamine Beta-Hydroxylase Deficiency

Dopamine-beta-hydroxylase (D beta H) is the enzyme responsible for intraneural conversion of dopamine to norepinephrine. Its deficiency results in failure of norepinephrine synthesis, excessive dopamine release and orthostatic hypotension. We studied a young patient with this deficiency using the currently available[…] [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]

Short fingers or toes 0001156 Moderately short stature Moderate short stature 0008848 Multiple impacted teeth Impacted teeth 0001571 Round face Circular face Round facial [rarediseases.info.nih.gov]

Humero-Radial Synostosis

Distal symphalangism has been described in several familial members over multiple generations in association with brachydactyly resembling type A1 brachydactyly, scoliosis [rrnursingschool.biz]

[…] of hand Brachydactyly-all 3 phalanges Brachydactyly-missing phalanx Brachymesophalangia Brachymetacarpia Camptodactyly Camptodactyly-little finger Carpal synostosis Cleidocranial [emedcodes.com]

Part B 12(3): 192-196, 2003 A complex symphalangia syndrome with brachydactyly, humeroradial synostosis and other multiple joint dysplasias. [eurekamag.com]