Symptoma

Brachydactyly Type B1

Therefore, one aim of this atlas is to present a comprehensive overview of limb malformation phenotypes in order to provide the clinician with a tool that facilitates the diagnostic process. [books.google.com]

Jordan Hamamy et al. (2006) reported on a 29-year old Jordanian male, who presented with marked shortening of fingers (except thumb) with absence of nails. Fingers III-V had bulbous finger tips, and toes II-V had hypoplastic nails. [cags.org.ae]

Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present. [orpha.net]

Amine Post to Citeulike Two classes of micromechanics-based models of void enlargement are presented succinctly with their fundamental hypotheses and synopsis of derivation highlighted. [authormapper.com]

Patients can also present brachydactyly, with extensive aplasia/hypoplasia of the phalanges and metacarpals/metatarsals, and brachy-syn-polydactyly of the hands and oligodactyly of the feet. [uniprot.org]

  • Broad Thumb

    Synonyms BRACHYDACTYLY, TYPE B; BDB Classification bone, developmental, genetic Phenotypes Anonychia ; Aplasia/Hypoplasia of the distal phalanges of the hand ; Aplasia/Hypoplasia of the distal phalanges of the toes ; Autosomal dominant inheritance ; Broad [mousephenotype.org]

    Broad thumbs with or without distal duplication/clefts and syndactyly occur in severe cases. The feet show similar hypoplastic/aplastic distal phalanges. Fusion of carpal bones may occur. [link.springer.com]

  • Short Finger

    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]

    They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, [rarediseases.info.nih.gov]

  • High Arched Palate

    In addition, the patient also showed a prominent nose, high nasal bridge, hypoplastic ala nasi, and high arched palate; all typical of BDB. Genetic analysis proved the presence of a de novo heterozygous mutation in the patient in the ROR2 gene. [cags.org.ae]

  • Brachydactyly

    Abstract Brachydactyly type B, an autosomal dominant disorder that is characterized by hypoplasia of the distal phalanges and nails, can be divided into brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). [ncbi.nlm.nih.gov]

    […] type B1 (ROR2) TEST DETAILS Cost of Brachydactyly type B1 (ROR2) Test in India Brachydactyly type B1 (ROR2) Test center Link Brachydactyly type B1 (ROR2) Cost Brachydactyly type B1 (ROR2) Test Price in Delhi 19000.00 Brachydactyly type B1 (ROR2) Test [dnalabsindia.com]

    brachydactyly type B. ( 10986040 ) Schwabe G.C....Mundlos S. 2000 17 Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. ( 9973295 ) Gong Y....Warman M.L. 1999 18 Brachydactyly type [malacards.org]

    brachydactyly type B1 (BDB1) and brachydactyly type B2 (BDB2). [semanticscholar.org]

    Name Brachydactyly, Type B1 Synonyms BRACHYDACTYLY, TYPE B; BDB Classification bone, developmental, genetic Phenotypes Anonychia ; Aplasia/Hypoplasia of the distal phalanges of the hand ; Aplasia/Hypoplasia of the distal phalanges of the toes ; Autosomal [mousephenotype.org]

  • Hypoplastic Nails

    Fingers III-V had bulbous finger tips, and toes II-V had hypoplastic nails. Thumbs and big toes were normal. The patient was born to non-consanguineous healthy parents, and also had three normal siblings (confirmed radiographically). [cags.org.ae]

  • Eruptions

    Aplasia/Hypoplasia of the distal phalanges of the hand ; Aplasia/Hypoplasia of the distal phalanges of the toes ; Autosomal dominant inheritance ; Broad thumb ; Camptodactyly ; Cutaneous finger syndactyly ; Delayed cranial suture closure ; Delayed eruption [mousephenotype.org]

  • Withdrawn

    […] symbols: BDB, BDB1, NTRKR2 ) Mouse Orthologs Ror2 (Withdrawn symbols: Ntrkr2 ) Source OMIM:113000 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models [mousephenotype.org]

  • Microphallus

    Metaphyseal Dysplasia without Hypotrichosis Methionine Synthase Reductase Deficiency Methylmalonic Aciduria, cblB type Methylmalonic Aciduria and Homocystinuria, cblC Type Methylmalonic Aciduria, mut(0) Type Mevalonic Aciduria Microhaematuria and Protinuria Microphallus [sequencing.com]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. [uniprot.org]

Etiology In the majority of cases, BDB is caused by mutations in the receptor kinase-like orphan receptor 2 gene ( ROR2 ) on 9q22. Genetic counseling An autosomal dominant pattern of inheritance has been reported. [orpha.net]

Summary Epidemiology Prevalence is unknown but only a few cases have been reported in the literature. Clinical description The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. [orpha.net]

Relevant External Links for ROR2 Genetic Association Database (GAD) ROR2 Human Genome Epidemiology (HuGE) Navigator ROR2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ROR2 No data available for Genatlas for ROR2 Gene Dominant mutations [genecards.org]

For long term storage store at -20 C in small aliquots to prevent freeze-thaw cycles. Expiry Date 6 months Supplier Images Western blot analysis of anti-ROR2 Antibody (ABIN392046) in K562 cell line lysates (3... [antibodies-online.com]

For long term storage store at -20 degree C in small aliquots to prevent freeze-thaw cycles. Other Notes Small volumes of anti-ROR2 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. [mybiosource.com]