Presentation
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]
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]
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]
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]
From molecular mechanisms and epigenetic technology to discoveries in human disease and clinical epigenetics, the nature and applications of the science will be presented for those with interests ranging from the fundamental basis of epigenetics to therapeutic [books.google.com]
Entire Body System
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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]
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Multiple Congenital Anomalies
Discussion The SHFM is a central reduction defect of the hands or feet which may exist as an isolated trait or part of multiple congenital anomaly syndrome including acro-dermato-ungual-lacrimal-tooth syndrome, ectrodactyly-ectodermal dysplasia-cleft [jmgims.co.in]
Respiratoric
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Rhinorrhea
A patient with Mondini dysplasia may present with unilateral or bilateral hearing loss of various levels, cerebrospinal fluid otorrhea, rhinorrhea, or recurrent episodes of meningitis. [journals.lww.com]
Jaw & Teeth
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High Arched Palate
Oral examination indicated irregular placement of teeth and a high-arched palate (Fig. 1b). [journals.lww.com]
Ears
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Hearing Impairment
Ectrodactyly of the right foot was noted and transient evoked otoacoustic emission screening indicated hearing impairment. Further examinations were at first declined by the mother. [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]
Face, Head & Neck
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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]
Neurologic
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Meningism
We suggest that children with congenital hearing loss and/or meningitis history should be evaluated for inner ear malformations. [journals.lww.com]
Treatment
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]
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]
Congenital cleft-foot deformity treatment. J Pediatr Orthop 1999;19:404-10. [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5] [jotr.in]
Prognosis
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]
Etiology
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]
classical cleft also known as lobster-claw anomaly). [3], [4] Both genetic and environmental factors have been implicated in the etiology of the disease process. [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]
Epidemiology
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]
Pathophysiology
Anaesthesia. (1992) [ Pubmed ] Pathophysiology of brain ischemia as it relates to the therapy of acute ischemic stroke. Lassen, N.A. [wikigenes.org]
Prevention
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]