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]

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]

• Disability

  Four generations of the Waipouri whanau have Extrodactyly - but they are finding it's not so much of a disability as a unique challenge. Source: Marae [tvnz.co.nz]

  Please enable JS and disable any ad blocker [cairn.info]

  […] into chest (rare) Kidney and urogenital Small labia minora (fat pads on the side of the vaginal opening) in most females Rare kidney structural problems Cognitive and Psychological Development and intellectual ability normal in most (80-85%) Cognitive disability [nfed.org]

  We were told that children are very resilient and learn how to adapt, often times turning their "disability" into amazing abilities :-). Both of my son's feet are affected by ectrodacyly. [justanotherlittlemiracle.blogspot.com]

• Anemia

  Dry ice used to keep food cold, pyrethroid Pesticides Pre-existing illness—such as anemia, asthma, COPD, and coronary arterial disease—the stresses of flight could exacerbate symptoms. Nocebo effects can lead to health problems too. [wikivisually.com]

  The mother had anemia during pregnancy and controlled gestational diabetes with haemoglobin A1C of 6.3 and 6.4% and finger stick values of 112, 75 and 94 mg/dL. She had adequate prenatal care with normal prenatal ultrasounds. [omicsonline.org]

• Surgical Procedure

  Reconstruction was required through multiple surgical procedures and seldom obviated the need for orthoprosthesis. [afrjpaedsurg.org]

• Foot Deformity

  /split-foot malformation may present in a variety of ways with some cases having greater deformity than others. [podiatrytoday.com]

  […] bilateral split hand-foot deformity [Figure 1]. [afrjpaedsurg.org]

  Aplasia of tibia with split-hand/split-foot deformity. Report of six families with 35 cases and considerations about variability and penetrance. Hum Genet. 1985; 70:136–47. DOI: 10.1007/BF00273072. PMID: 4007857. [ CrossRef ] [ Google Scholar ] 5. [e-sciencecentral.org]

  Figure 3: Photograph of left foot showing combination of syndactyly and cleft foot deformity Click here to view Systemic examination was normal and the boy exhibited normal development for his age. He is the fifth child out of five siblings. [njps.org]

  Congenital cleft foot and hand. Indian Pediatr 1999;36:935-8. [26] Verma IC, Joseph R, Bhargava S, Mehta S. Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet 1976;9:8-14. [27] Parkash H, Grewal MS, Sidhu SS. [gooa.las.ac.cn]

• Aniridia

  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]

• 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]

  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]

  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]

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

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

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]

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

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]