Severe Brachydactyly: Causes & Reasons

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Possible Causes for Severe Brachydactyly

Metaphyseal Acroscyphodysplasia

[…] 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

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]

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]

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]

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]

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]

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]

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]

Brachydactyly Type A1B

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 A3

Variability in severity and incomplete penetrance are common in several types of brachydactyly. [ncbi.nlm.nih.gov]

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]

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

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]

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]

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

Brachydactyly Type A2

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]

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]

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 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]

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]

Brachydactyly Type A4

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]

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]

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]

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]

Tricho-Rhino-Phalangeal Syndrome Type 1

brachydactyly. [orpha.net]

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

Dauwerse-Peters Syndrome

Brachydactyly, and Syndactyly 57 70 Short Stature, Facial Dysmorphism, Severe Brachydactyly and Syndactyly 20 Classifications: External Ids: Summaries for Dauwerse-Peters [malacards.org]

Names and Terminology Other Names : Short stature, facial dysmorphism, severe brachydactyly and syndactyly ... Source: GARD (NIH) 1 ... ... [familydiagnosis.com]

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]

Berk-Tabatznik Syndrome

It causes sudden cardiac death due to ventricular tachycardia, and it prominently causes a unique type of brachydactyly with mild hand involvement and more severe foot involvement [owlapps.net]

[10] Brachydactyly-long thumb syndrome [ edit ] Described in one family. [en.wikipedia.org]

Heart-hand syndrome, Slovenian type Several people in multiple generations have suffered this type. [owlapps.net]

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]

Abstract In 1993, Nicolaides and Baraitser reported a new condition consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe [insights.ovid.com]

Partial Trisomy 17p

Intellectual deficit is severe to profound and the prognosis is poor. [ncbi.nlm.nih.gov]

Digital abnormalities include absent fourth and fifth digits, brachydactyly and fifth finger clinodactyly. [ncbi.nlm.nih.gov]

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]

Ablepharon Macrostomia Syndrome

[…] visual loss and brachydactyly type B. [wordscope.com]

It has been / 719016007 SNOMEDCT-BE (disorder) / 719016007 A malformation syndrome with the combination of bilateral coloboma of macula, horizontal pendular nystagmus, severe [wordscope.com]

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]

GOMBO Syndrome

mixed hearing loss and mental retardation of variable severity. [orpha.net]

[…] deafness autistic behaviour Several conditions characterised by short fingers, reduced joint mobility, short stature, and muscular build with or without mental retardation [jmg.bmj.com]

[…] diseases Search Search for a rare disease Myhre syndrome Disease definition Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly [orpha.net]