The hand deformities of 10 patients with brachydactyly type C are presented to characterize the hand abnormalities in the syndrome and its variable presentation. [ncbi.nlm.nih.gov]

The patient did not present with other malformations or complains requiring any further evaluation. [ijcasereportsandimages.com]

Orpha Number: 93397 Disease definition Brachydactyly type A7 (Smorgasbord type) is a form of brachydactyly that presents with the characteristic features of brachydactyly type A2 (shortening of the middle phalanges of the index finger and, sometimes, [rarediseases.info.nih.gov]

• Hand Pain

  Complaints related to the hands or joints were limited to two members who reported “hand pains”, although one 46 year old male (107) had radiographic evidence of arthritis of the hips. [jmg.bmj.com]

• Normal Stature

  As the patient had normal stature, normal laboratory parameters and no psychomotor developmental delay, the case was classified as isolated E type brachydactyly. [ncbi.nlm.nih.gov]

  In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. Epidemiology The syndrome has been described in 12 members from four generations of one family. [rarediseases.info.nih.gov]

  Finally, in general, affected individuals had normal stature and no appreciable psychomotor developmental delay (Additional file 1 : Table S2) [ 9, 11, 13, 14 ]. [ojrd.biomedcentral.com]

• Carpal Bone Fusion

  Synostosis of carpal bones Fusion of wrist bones 0005048 1%-4% of people have these symptoms Carpal synostosis 0009702 Distal symphalangism of hands Fused outermost bones of hand 0001204 Proximal symphalangism of hands Fused innermost hinge joints 0006152 [rarediseases.info.nih.gov]

• Short Humerus

  The phenotype consists of short humerus, curved radius with accessory ossification centre at the proximal third of ulna, variable short stature and brachydactyly, and has not been reported to the best of our knowledge. [ncbi.nlm.nih.gov]

• Hyperextensible Joints

  Other signs and symptoms of brachydactyly type E may include having very flexible joints in the hands ( hyperextensibility ), having a round face, and being shorter than expected ( short stature ). [rarediseases.info.nih.gov]

• Shortened Long Bone

  bone of hand 0006146 Broad palm Broad hand Broad hands Wide palm [ more ] 0001169 Flattened metatarsal heads Flattened head of long bone of foot 0005194 Proportionate shortening of all digits 0006165 Radial deviation of the 2nd finger 0009467 Radial [rarediseases.info.nih.gov]

Different types of brachydactyly Treatment In many cases, brachydactyly doesn't cause any significant problem for the person who has a short finger or toe, so there may really be no need for any treatment whatsoever. [study.com]

Concerning her cosmetic complaints, options for surgical treatment were discussed. It was decided to treat only the nasal deformity by open rhinoplasty, leaving the nail deformities undisturbed. [ncbi.nlm.nih.gov]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

The treatment of brachydactyly varies with the extent of involvement and status of the other digits. Mild digital shortening requires no treatment, as it has little effect on hand function. [78stepshealth.us]

If brachydactyly forms part of a syndromic entity, prognosis often depends on the nature of the associated anomalies. [ncbi.nlm.nih.gov]

[…] phalanges Treatment: Conservative Occupational Therapy for adaptive needs, but often not necessary Surgical cosmetic ‘nubbin’ removal bone lengthening for improved pinch formation of satisfactory radial and ulnar ‘posts’ web-space deepening Outcomes: Prognosis [posna.org]

Prognosis Isolated BD generally has an excellent prognosis. When BD is associated with other health problems or is part of another condition, the overall prognosis depends upon the nature of the associated condition. [encyclopedia.com]

What is the prognosis? If the malformation of the digits is not severe, then hand and foot function will be normal. Function can be severely affected with more pronounced cases of brachydactyly. [bodyandhealth.canada.com]

Presently, several etiologies were considered for the development of TTS, the most accredited ones suggest that stress, adrenoreceptor hyperactivity and estrogens are the most important causes of transient morphofunctional alterations of left ventricle [ncbi.nlm.nih.gov]

Hand Malformations Hand and finger malformations represent a challenging area of clinical genetics from the standpoint of understanding the classification as well as in understanding the genetic etiologies, which are often due to single gene mutations [peds.ufl.edu]

Etiology unknown manifests at gestational week 6-8 Genetics depends on the specific type of brachydactyly Defects in: Bone Morphogenic Protein (BMP), Indian Hedgehog (IHH), and HOX have been identified Incidence in general it is rare however in types [posna.org]

Etiology BDE may be due to mutations in the PTHLH gene (12p12.1-p11.2) or HOXD13 (2q31-q32). Antenatal diagnosis It is inherited as an autosomal dominant trait with variable expressivity. [orpha.net]

Epidemiology It has been reported in one family. Last updated: 7/10/2008 [rarediseases.info.nih.gov]

Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [ 4 ]. [ncbi.nlm.nih.gov]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Summary Epidemiology BDE is very rare. Clinical description Occasionally, the metatarsals are also short. Hyperextensibility of the hand joints is a striking feature. Axial triradius may occur. [orpha.net]

Pathophysiology The specific pathophysiologic mechanism of digital clubbing remains unknown. Many theories have been proposed, yet none have received widespread acceptance as a comprehensive explanation for the phenomenon of digital clubbing. [emedicine.medscape.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

The patient was treated for his wounds and referred to physical therapy, to help improve his fine motor skills, to prevent similar accidents in the future. References Temtamy SA, McKusick VA. The Genetics of Hand Malformations. [ijcasereportsandimages.com]

In some cases physical and occupational therapy are required to help maximize usage of the arm and prevent muscle tightening. [dellchildrens.net]

To prevent this the amount of lengthening should not exceed 40% of the preoperative length of the metatarsal. J Bone Joint Surg [Br] 1997;79-B:955-8. [the-medical-dictionary.com]