Severe Brachydactyly: Causes & Reasons

Possible Causes for Severe Brachydactyly

[…] 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]

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

[…] short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet, metaphyseal changes [pure.unipa.it]

Tricho-Rhino-Phalangeal Syndrome Type 3

Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types. [orpha.net]

brachydactyly. [orpha.net]

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]

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]

Acrodysostosis

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

Abstract Acrodysostosis is a rare autosomal-dominant condition characterized by facial dysostosis, severe brachydactyly with cone-shaped epiphyses, and short stature. [ncbi.nlm.nih.gov]

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]

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]

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

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]

Artículo en Inglés | MEDLINE | ID: mdl-9973296 Brachydactyly type B (BDB), an autosomal dominant disorder, is the most severe of the brachydactylies and is characterized by [pesquisa.bvsalud.org]

Anauxetic Dysplasia

brachydactyly. [unboundmedicine.com]

[…] 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 [unboundmedicine.com]

Brachydactyly Type A3

Variability in severity and incomplete penetrance are common in several types of brachydactyly. [cyberleninka.org]

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Prognosis for the brachydactylies is strongly dependent on the nature of the brachydactyly, and may vary from excellent to severely influencing hand function. [cyberleninka.org]

Brachydactyly Type E2

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

In the mild variety of brachydactyly, the hypoplasia of the middle phalanges is less severe with more affection of the index and little fingers. [ojrd.biomedcentral.com]

Brachydactyly Type A1B

[…] reported among Israeli Arabs and in the Japanese population[7] Type A3 was found at an especially high frequency of 21% among Japanese schoolchildren.[8] Types There are several [wikideck.com]

[…] reported among Israeli Arabs and in the Japanese population[7] Type A3 was found at an especially high frequency of 21% among Japanese schoolchildren.[8] Types[edit] There are several [en.wikipedia.org]

[…] types of brachydactyly: Type OMIM Gene Locus Also known as Description Type A1, BDA1 112500 IHH BDA1B 5p13.3-p13.2, 2q33-q35 Brachydactyly type A1 or Farabee-type brachydactyly [wikideck.com]

Acrodysostosis Type 1

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

brachydactyly and facial dysostosis. [exeterlaboratory.com]

Severe brachydactyly, secondary to shortening of the tubular bones of hands and feet, and acromesomelic brachymelia are common. [accessanesthesiology.mhmedical.com]

Charcot-Marie-Tooth Disease Type 2H

The six autosomal dominant skeletal dysplasias (mildest to most severe) are: Familial digital arthropathy-brachydactyly. Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

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]

Brachydactyly Type C

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

There are 5 types (A–E) and several subtypes (A1–A4; E1–E3). It has an autosomal dominant pattern of inheritance with variable penetrance. [analesdepediatria.org]

Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

Brachydactylous Dwarfism Type Mseleni

Severe short staure and brachydactyly have been reported in a few patients with MJD. Last updated: 4/14/2015 [rarediseases.info.nih.gov]

Severe short staure and brachydactyly have been reported in a few patients with MJD. [malacards.org]

Brachydactyly Type A2

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Types[edit] There are several types of Brachydactyly: Type OMIM Gene Locus Also known as/Description Type A1, BDA1 112500 IHH BDA1B 5p13.3-p13.2, 2q33-q35 Brachydactyly type [en.wikipedia.org]

There are 5 types (A–E) and several subtypes (A1–A4; E1–E3). It has an autosomal dominant pattern of inheritance with variable penetrance. [analesdepediatria.org]

Bellini-Chiumello-Rinoldi Syndrome

and severe brachydactyly. [accessanesthesiology.mhmedical.com]

[…] short stature with accelerated bone maturation, micromelia predominating in the lower limbs, knee flexion, severe brachydactyly, very short hands and feet (1; 2). [ispub.com]

Clinical aspects The main clinical features of this metaphyseal chondrodysplasia are severe growth retardation, predominantly lower extremity micromelia, knee flexion contractures [accessanesthesiology.mhmedical.com]

Brachydactyly Type A7

Types[edit] There are several types of Brachydactyly: Type OMIM Gene Locus Also known as/Description Type A1, BDA1 112500 IHH BDA1B 5p13.3-p13.2, 2q33-q35 Brachydactyly type [en.wikipedia.org]

In polydactyly, extra fingers or toes develop, and in syndactyly several fingers ... [educalingo.com]

«Nature.com, mai 15» Researchers find some rare diseases are caused by the destruction … Brachydactyly is a hereditary shortening of the fingers and toes. [educalingo.com]

Exostoses - Anetodermia - Brachydactyly Type E Syndrome

Note severe brachydactyly of metatarsal 4 and less severe brachymetatarsy 5. Are exostoses present? Fig. 4 The pedigree. [documents.tips]

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]

One to several in each patient. Clinical onset between 5 and 33 yr. Various sizes (up to 6 cm). [documents.tips]

Dauwerse-Peters Syndrome

[…] eyes, mild nostril anteversion, low-set ears, broad nasal root, severe generalized hand brachydactyly and 2nd-3rd toe syndactyly. [en.wikipedia.org]

Synonyms Short stature, facial dysmorphism, severe brachydactyly and syndactyly Overview No overview is available at this time. Please check back for future updates. [rarediseases.org]

About Library Blog FAQ Testimonials Rare Charities Press Contact Search the Library Other Names: Short stature, facial dysmorphism, severe brachydactyly and syndactyly See [rareguru.com]

Brachydactyly Type E

Here, we report on a three-generation pedigree with short humerus, curved radius, and a specific type of severe brachydactyly with features of types E and A1 but without the [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]

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]

Brachydactyly Type B

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

In the mild variety of brachydactyly, the hypoplasia of the middle phalanges is less severe with more affection of the index and little fingers. [ojrd.biomedcentral.com]

Brachydactyly Type E1

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

In the mild variety of brachydactyly, the hypoplasia of the middle phalanges is less severe with more affection of the index and little fingers. [ojrd.biomedcentral.com]

Tricho-Rhino-Phalangeal Syndrome Type 1

Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types. [orpha.net]

brachydactyly. [orpha.net]

In patient with TRPS phenotype, severe brachydactyly and severe short stature, TRPS III may be suspected. [ijponline.biomedcentral.com]

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]

Brachydactyly Type A1

They have identified several mutations in the gene ROR2 in people with brachydactyly type B1. [tr-ex.me]

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

epileptic episodes, and moderate to severe mental retardation with impaired language development. [tr-ex.me]

Brachydactyly Type A4

According to the degree of shortening, Drinkwater [7–9] identified two varieties, severe and minor brachydactyly. [ojrd.biomedcentral.com]

Types[edit] There are several types of Brachydactyly: Type OMIM Gene Locus Also known as/Description Type A1, BDA1 112500 IHH BDA1B 5p13.3-p13.2, 2q33-q35 Brachydactyly type [en.wikipedia.org]

Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

PDE4D Haploinsufficiency Syndrome

BACKGROUND: Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia [ncbi.nlm.nih.gov]

Point mutations in PDE4D have recently been linked to acrodysostosis, an autosomal dominant disorder characterized by facial dysostosis, severe brachydactyly, nasal hypoplasia [ashg.org]

brachydactyly, midfacial hypoplasia and intellectual disability. [jmg.bmj.com]

Ruzicka-Goerz-Anton Syndrome

Further studies showed several skeletal deformities including brachydactyly, clinodactyly, and extra ribs. [alchetron.com]

Nicolaides-Baraitser Syndrome

seizures, and mild to severe intellectual disability with poor language development. [thinkgenetic.com]

[…] syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay [orpha.net]

[…] most common symptoms are sparse hair, small head size (microcephaly), distinct facial features, short stature, prominent finger joints, unusually short fingers and toes (brachydactyly [thinkgenetic.com]