brachydactyly


Also found in: Dictionary, Medical, Acronyms, Encyclopedia, Wikipedia.
Graphic Thesaurus  🔍
Display ON
Animation ON
Legend
Synonym
Antonym
Related
  • noun

Synonyms for brachydactyly

abnormal shortness of fingers and toes

References in periodicals archive ?
Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.
They show facial dimorphism (flat face, blepharophimosis, hypertelorism, and broad nasal bridge) and brachydactyly and are affected, respectively, by cyclothymic disorder and bipolar II disorder.
Brachydactyly is a rare condition with a prevalence of 2% (1).
It is a clinically and genetically heterogeneous condition characterized by facial dysmorphic features, short stature, brachydactyly, and genital anomalies (19,20).
Interestingly, ADAMTS-12 was found to function as the downstream target of parathyroid hormone-like hormone/ parathyroid hormone related peptide (PTHLH/PTHrP) in chondrocytes, and both PTHLH and ADAMTS-12 were all downregulated along with impaired chondrogenic differentiation within brachydactyly type E (BDE) [77].
A heterozygous loss of function mutation in GDF5 leads to a malformation of the hands, the brachydactyly type C [43].
Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features.
The digital manifestations are brachydactyly, polydactyly, syndactyly, clinodactyly and duplicated hallux.
Clinical and radiographic features of achondroplasia Clinical features Radiographic features Disproportionate short stature Long bones: Short, robust tubular bones; generalised metaphyseal Large head with frontal bossing changes (may be mild) Mid-face hypoplasia with depressed Spine: narrowing of the nasal bridge interpedicular distance in lumbar spine Rhizomelic shortening of the arms and legs Pelvis: rounded ilia and horizontal acetabulae; narrow Brachydactyly, often with trident sacrosciatic notches configuration of the hands Femurs: proximal radiolucency of Bowed legs femoral heads Thoraco-lumbar kyphosis in infancy Exaggerated lumbar lordosis when ambulatory Normal/average intelligence
Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
Weill-Marchesani syndrome is also a connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye anomalies including ectopia lentis, which is also one of the clinical symptoms of MFS.
If they survive, children with neonatal hyperthyroidism may demonstrate growth retardation, advanced bone age, premature craniosynostosis, exophthalmos, brachydactyly, and frontal bossing.