Several studies have pointed out the probable role of three genes present in this region – DLX5, DLX6 and DSS1 - in limb development. [molecularcytogenetics.biomedcentral.com]

When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a rare case of SHFM with sensorineural hearing loss. [cjhr.org]

Case Report The patient is a 9-year-old boy who presented at our hospital with deformity of the right hand and both feet since birth. [njps.org]

Milder forms may present with hypoplasia of a single phalanx or syndactyly but severe forms present with aplasia of one or more central digits (i.e., classical cleft also known as lobster-claw anomaly). [3], [4] Both genetic and environmental factors [jmgims.co.in]

Type IV 3 metatarsals are present. The second, third and/or fourth metatarsals are missing. Type V 2 metatarsals are present. The second, third and fourth metatarsals are missing. Type IV 1 metatarsal is present. [podiatrytoday.com]

• Turkish

  Our patient is the third child of healthy, unrelated Turkish parents. Natal and prenatal history is unknown. There is no family history of limb malformations, mental retardation, nor hearing loss. [journals.lww.com]

  We mapped data from a large Turkish family with isolated SHFM to chromosome 10q24 and have narrowed the SHFM3 region from 9 cM to an approximately 2-cM critical interval between genetic markers D10S1147 and D10S1240 [11]. [wikigenes.org]

• Fishing

  FISH using BAC clones resolved the break to have occurred within the band 7q21.3. Cytogenetic evaluation of her parents showed the deletion to be of a de novo origin. [molecularcytogenetics.biomedcentral.com]

• Hearing Impairment

  Moreover, sensorineural hearing impairment has rarely been reported in syndromic SHFM. 21-26 In two of these cases, however, an apparently balanced translocation involving chromosome 7q was found to cosegregate with the disease. 25 26 Conductive hearing [jmg.bmj.com]

  Vital parameters were stable and there was severe sensorineural hearing deficit on ear, nose, and throat (ENT) examination (audiometric examination showed moderate hearing impairment on the right and severe impairment on the left). [cjhr.org]

  Showing of 6 | 80%-99% of people have these symptoms Oligodactyly 0012165 30%-79% of people have these symptoms Finger syndactyly 0006101 5%-29% of people have these symptoms Absent hand 0004050 Aniridia Absent iris 0000526 Sensorineural hearing impairment [rarediseases.info.nih.gov]

• Depressed Nasal Bridge

  Physical examination showed arched eyebrows, a small triangular nose with a depressed nasal bridge, and ears with overfolded helices and attached earlobes (fig 1 ). [jmg.bmj.com]

• Prominent Nasal Root

  In adult life, on clinical examination, she had facial asymmetry, and a broad and a prominent nasal root (Fig. 1a). Oral examination indicated irregular placement of teeth and a high-arched palate (Fig. 1b). [journals.lww.com]

Treatment - Split hand split foot malformation autosomal recessive Not supplied. Resources - Split hand split foot malformation autosomal recessive Not supplied. [checkorphan.org]

The treatment aims at improving the appearance and proper functioning of a limb. Appropriate surgical intervention by experts remains the mainstay. [jmgims.co.in]

Congenital cleft foot deformity treatment. J Pediatr Orthop. 1999; 19(3):404-410. [podiatrytoday.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]

In: Muenke M, Kress W, Collmann H, Solomon BD (Hrsg) Craniosynostoses: Molecular Genetics, Principles of Diagnosis, and Treatment. [link.springer.com]

Prognosis - Split hand split foot malformation autosomal recessive Not supplied. Treatment - Split hand split foot malformation autosomal recessive Not supplied. Resources - Split hand split foot malformation autosomal recessive Not supplied. [checkorphan.org]

Two types exist (typical and atypical), probably related to 2 different etiologies: typical cleft hand probably results from fusion of digits, atypical cleft is probably caused by necrosis secondary to a vascular insult. [humpath.com]

[…] hypoplasia of a single phalanx or syndactyly but severe forms present with aplasia of one or more central digits (i.e., classical cleft also known as lobster-claw anomaly). [3], [4] Both genetic and environmental factors have been implicated in the etiology [jmgims.co.in]

Ultrasound Obstet Gynecol 26:618–621 CrossRef PubMed PubMedCentral Google Scholar Gold NB, Westgate M-N, Holmes LB (2011) Anatomic and etiological classification of congenital limb deficiencies. [link.springer.com]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Am J Obstet Gynecol 202:596.e1–596.e10 CrossRef Google Scholar Rasmussen SA, Bieber FR, Benacerraf BR, Lachman RS, Rimoin DL, Holmes LB (1996) Epidemiology of osteochondrodysplasias: changing trends due to advances in prenatal diagnosis. [link.springer.com]

Anaesthesia. (1992) [ Pubmed ] Pathophysiology of brain ischemia as it relates to the therapy of acute ischemic stroke. Lassen, N.A. [wikigenes.org]

Split foot * Lobster-claw hand * Lobster-claw foot * Missing fingers * Missing toes * Missing hand bones * Missing foot bones * Missing part of finger * Missing part of toe Causes - Split hand split foot malformation autosomal recessive Missing fingers Prevention [checkorphan.org]

However, incomplete penetrance, variable expressivity, segregation distortion, and syndromic association with other anomalies have so far prevented the identification of the SHFM1 gene(s) in man [16]. [wikigenes.org]