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]

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]

• Short Stature

  Unequal size of arms 0100560 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Brachydactyly Short fingers or toes 0001156 Moderately short stature Moderate short stature 0008848 Multiple impacted [rarediseases.info.nih.gov]

  Acronym HTNB Synonyms Bilginturan syndrome Brachydactyly, type E, with short stature and hypertension Brachydactyly type E with short stature and hypertension Brachydactyly with hypertension Any medical or genetic information present in this entry is [uniprot.org]

• Swelling

  Symptoms Symptoms of a fracture include: pain, swelling, bruising, weakness, numbness/tingling, decreased movement or bone/joint deformity. [dellchildrens.net]

  The combination of cataracts and swelling of the optic nerves in children requires evaluation for hypocalcemia. Systemic Features: The title refers to a group of conditions that have organ resistance to parathyroid hormone. [disorders.eyes.arizona.edu]

  Clubbing is a clinically descriptive term, referring to the bulbous uniform swelling of the soft tissue of the terminal phalanx of a digit with subsequent loss of the normal angle between the nail and the nail bed. [emedicine.medscape.com]

• Surgical Procedure

  procedures Recommended Readings: Seitz WH Jr, Froimson AI. [posna.org]

  Treatment is via a number of differing surgical procedures, congenital causes include, Aarskog syndrome, Albrights hereditary osteodystrophy, and Apert syndrome. Can be caused by a trauma, although the mechanism is not known. [wikivisually.com]

• Fatigue

  Symptoms The most common symptoms include stiffness and swelling in the joints, limping or favoring one limb over another, fatigue and irritability and slow growth. [dellchildrens.net]

• Inguinal Hernia

  In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. [ncbi.nlm.nih.gov]

• Strabismus

  Reduced acuity is likely responsible for the associated nystagmus and occasional strabismus. Night blindness is a feature although the age of onset is unknown. [disorders.eyes.arizona.edu]

  Other frequent features are: lymphedema, congenital malformations of the urinary system (30-40%), abnormalities of the external ocular appendages, (epicanthal folds, ptosis, hypertelorism, upward slanting palpebral fissures), strabismus and hypermetropia [ojrd.biomedcentral.com]

• Low Set Ears

  The clinical picture included macrocephaly, frontal bossing, bilateral epicanthus, down-slanted palpebral fissures, low-set ears, hypoplastic nostrils, micrognathia, scoliosis, right single palmar crease, small nails, slender fingers, bilaterally flexed [ncbi.nlm.nih.gov]

  Nonspecific craniofacial dysmorphology features are frequently present including frontal bossing, macrocephaly, low-set ears, large columella, hypoplastic nares, and malar hypoplasia. [disorders.eyes.arizona.edu]

• Brachydactyly

  Type A1 brachydactyly Type A2 brachydactyly Type A4 brachydactyly Type A5 brachydactyly Type B brachydactyly Type C brachydactyly Type D brachydactyly Type E brachydactyly Unilateral brachydactyly Show more MP browser MP:0002544 Phenotype associations [mousephenotype.org]

  From Wikidata Jump to navigation Jump to search bone development disease characterized by short fingers and toes nonsyndromic brachydactyly brachydactyly isolated brachydactyly edit English brachydactyly bone development disease characterized by short [wikidata.org]

  Table 1 Types of isolated brachydactyly Name Synonyms OMIM Brachydactyly type A Brachydactyly type A1 (BDA1) Farabee type brachydactyly 112500 Brachydactyly type A2 (BDA2) Mohr-Wriedt type brachydactyly 112600 Brachydactyly type A3 (BDA3) Brachymesophalangy [ncbi.nlm.nih.gov]

  Brachydactyly. Orphanet J Rare Dis. 2008; 3: 15 (published online) [posna.org]

  Title Other Names: Type E brachydactyly Categories: Brachydactyly type E is a genetic disorder that causes some of the bones of the hands or feet to be shorter than expected. [rarediseases.info.nih.gov]

• Hand Deformity

  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]

  Hand deformities secondary to amniotic band syndrome. Amputated fingers, with constrictions and syndactyly. Figure 15. Brida o constrición severa del dedo índice con riesgo de riego sanguíneo que requiere Z plastia preferente. [cirugiamanoinfantil.com]

  Continue Contact us Join Login Save Item Save the item to: Cancel This page requires JavaScript Author Leboucq, Hector Louis François Royal College of Surgeons of England Date [1896] Topic Hand Deformities, Congenital Genre Electronic books Notes 'Extrait [wellcomelibrary.org]

• Short Extremities

  […] autosomal-dominant BDE and other malformations, including short extremities, dysmorphic facies, macrocephaly, prominent forehead and a depressed nasal root [ 76 ]. [ojrd.biomedcentral.com]

• Short Hands

  In addition to the typical bilateral split nail of the second finger, the patient showed bilateral inguinal hernia, a peculiar face, and short hands. [ncbi.nlm.nih.gov]

• Round Face

  face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short clavicles Short collarbone 0000894 Straight clavicles Straight collarbone 0006587 Showing of 17 | Last updated: 6/1/2019 Brachydactyly type E can be isolated or syndromic [rarediseases.info.nih.gov]

  This peculiar phenotype also includes small stature, obesity with rounded face, sc ossifications, and mental retardation and is described in some subjects with pseudohypoparathyroidism (PHP) ( 2, 3 ). [academic.oup.com]

  Short stature with a short neck, a round face, chubby cheeks, and a depressed nasal bridge are usually present. There may be cognitive deficits and some patients are considered to be mentally retarded. [disorders.eyes.arizona.edu]

  This phenotype includes BDE (Figure 2 ), small stature, obesity with a rounded face, subcutaneous calcifications, and mental retardation [ 29 ]. [ojrd.biomedcentral.com]

• Hypertelorism

  Other frequent features are: lymphedema, congenital malformations of the urinary system (30-40%), abnormalities of the external ocular appendages, (epicanthal folds, ptosis, hypertelorism, upward slanting palpebral fissures), strabismus and hypermetropia [ojrd.biomedcentral.com]

• Short Neck

  A short neck, brachydactyly, and overall shortness of stature are often present. Some individuals have nail dysplasia. The proximal femoral metaphyses sometimes show chondrodysplasia. [disorders.eyes.arizona.edu]

• Hyperactivity

  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]

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

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]

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]

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]

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]

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]

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]

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]

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]

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]

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.ro]

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.ro]

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

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]

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]