Severe-brachydactyly: Causes & Reasons

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Possible Causes for severe brachydactyly

Metaphyseal Acroscyphodysplasia

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

[…] 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]

Severe brachydactyly, brachymesophalangy, phalangeal and metacarpal cone-shaped epiphyses and irregular, bent and shortened diaphyses are the main signs of hand involvement [ncbi.nlm.nih.gov]

Acrodysostosis

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

Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations [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]

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]

[…] recessive brachydactyly. [ncbi.nlm.nih.gov]

Anauxetic Dysplasia

brachydactyly. [ncbi.nlm.nih.gov]

[…] 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 [ncbi.nlm.nih.gov]

Cystitis

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]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

Metabolic Syndrome

The expression and severity of the various clinical BBS features show inter- and intrafamilial variability. [ncbi.nlm.nih.gov]

[…] with Laurence-Moon-Biedl syndrome but considered today as a separate entity) characterized by abdominal obesity, mental retardation, dysphormic extremities (syndactyly, brachydactyly [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]

Brachydactyly with the same frequency is found in both sexes; the prevalence in the population - 1.5: 100000. traumatology and orthopedics are several types of brachydactyly [medicalformat.com]

Osteoarthritis

Only the mother was hard of hearing, and only her children had brachydactyly of the fourth digit. [ncbi.nlm.nih.gov]

The index patient, her mother and her three brothers had severe coxarthrosis, in some cases requiring surgery. [ncbi.nlm.nih.gov]

Cystocele

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]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

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]

Familial Hypercholesterolemia Type 1

Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1 Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 [preventiongenetics.com]

[…] retardation syndrome 2 4 Hyperphosphatasia with Mental Retardation Syndrome 6 1 Hyperpigmentation with or without Hypopigmentation 1 Hyperprolactinemia 2 Hypertension and Brachydactyly [preventiongenetics.com]

Psychosomatic Disorder

Growth Restriction with Distinctive Facies SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly [rgd.mcw.edu]

Syndrome Schrander-Stumpel Theunissen Hulsmans Syndrome Seckel syndrome 1 Seckel Syndrome 3 Sener Syndrome Sensenbrenner syndrome Seres-Santamaria Arimany Muniz Syndrome Severe [rgd.mcw.edu]

Abscess

There are several autosomal recessive syndromes [MIM*201000, MIM*201020, and MIM*272350] and one autosomal dominant form [MIM*101600]. [theodora.com]

[…] oxycephalic. acrocephalopolysyndactyly (ak′ro-sef′a-lo-pol′e-sin-dak′ti-le) A group of congenital syndromes characterized by abnormal skull shape due to craniosynostosis, brachydactyly [theodora.com]

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]

Solid Ovarian Teratoma

Growth Restriction with Distinctive Facies SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly [rgd.mcw.edu]

Syndrome Schrander-Stumpel Theunissen Hulsmans Syndrome Seckel syndrome 1 Seckel Syndrome 3 Sener Syndrome Sensenbrenner syndrome Seres-Santamaria Arimany Muniz Syndrome Severe [rgd.mcw.edu]

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]

Skeletal Dysplasia

The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [ncbi.nlm.nih.gov]

Note absence of both fibulae (A), X-ray of both hands and feet showing severe brachydactyly and radial deviation of fingers (B, C). 46. [slideshare.net]

Their mother has mild rhizomelic shortening of the limbs, brachydactyly, and severe myopia. [ncbi.nlm.nih.gov]

Coxa Vara

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]

Most severe: Parastremmatic dysplasia. Metatropic dysplasia. [ncbi.nlm.nih.gov]

The six skeletal dysplasias: Mildest: Familial digital arthropathy-brachydactyly. Intermediate: Autosomal dominant brachyolmia. [ncbi.nlm.nih.gov]

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]

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]

Hydronephrosis

clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched voice [ncbi.nlm.nih.gov]

[…] craniofacial features; low birth weight, normal head circumference, and short stature; bone age delay that normalizes between ages six and 12 years; skeletal anomalies (brachydactyly [ncbi.nlm.nih.gov]

Dilated Cardiomyopathy Type 2B

with the hands less severely affected than the feet. [ncbi.nlm.nih.gov]

Syndrome 1 Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy 1 Hyperthyroidism, Familial Gestational 2 Hyperthyroidism, Nonautoimmune 2 [preventiongenetics.com]

The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly [ncbi.nlm.nih.gov]

Familial Recurrent Peripheral Facial Palsy

[…] speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse hair-brachydactyly syndrome Intellectual [se-atlas.de]

[…] disability-spasticity-ectrodactyly syndrome Intellectual disability-strabismus syndrome Intermediate DEND syndrome Intermediate nemaline myopathy Intermediate severe Salla [se-atlas.de]

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Intellectual disability-severe [se-atlas.de]

Nivelon-Nivelon-Mabille Syndrome

brachydactyly). [ncbi.nlm.nih.gov]

[…] dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). [orpha.net]

The syndrome has clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalised chondrodysplasia (bell-shaped thorax, micromelia [ncbi.nlm.nih.gov]

Prata-Libéral-Gonçalves Syndrome

and Mental Retardation Robin Sequence with Distinctive Facial Appearance and Brachydactyly Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly Sillence [rgd.mcw.edu]

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX Is also known as semd, x-linked; Related symptoms: Growth delay Brachydactyly Kyphosis X-linked recessive inheritance Severe [mendelian.co]

Dysplasia with Maxillary Hypoplasia and Brachydactyly Mononen-Karnes-Senac syndrome Multiple Synostoses Syndrome 1 Prata Libéral Gonçalves Syndrome Prolonged Bleeding Time, Brachydactyly [rgd.mcw.edu]

Intellectual Disability

We present a case of familial BDMR, including a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype. [ncbi.nlm.nih.gov]

[…] syndrome (BDMR), a disorder that includes intellectual disability, behavioral abnormalities, autism spectrum disorder, and craniofacial and skeletal anomalies, including brachydactyly [ncbi.nlm.nih.gov]

Isolated Congenital Sclerocornea

Microcephaly, microphthalmia, brachydactyly with clinodactyly, severe mental retardation, conductive hearing loss, skeletal anomalie. – Congenital primary aphakia: caused [bredagenetics.com]

In the patient described by Jaspers et al, 2007 (PMID: 17273966 ) there were microcephaly, bilateral microphthalmia, blepharophimosis, and several other abnormalities, including [bredagenetics.com]

Hereditary Hyperekplexia

Symptoms Growth: Severe micromelic dwarfism Neck: Short neck Thorax: Short and narrow upper thorax Limbs: Brachydactyly Neuro: Mental retardation Radiology: Severe vertebral [findzebra.com]

An autosomal recessive disease that is characterised by severe reduction or absence of the fibula and complex brachydactyly. [amp.pharm.mssm.edu]

[…] type E2) PTHR1 (Chondrodysplasia, Blomstrand type) PTPN11 (Leopard syndrome) PTPRC (Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive [en.praenatal-medizin.de]