Ectrodactyly

Classification according to ICD-10
Q71.6	Split hand
Q72.7	Split foot
ICD-10 online (WHO version 2019)

Ectrodactyly (from ancient Greek ἐκτροπή ektropē , German 'turning away' , 'deviation' and δάκτυλος dáktylos , German 'finger' ) describes a congenital malformation of the hand or foot skeleton. Fingers or toes are mutilated or missing ( oligodactyly ), which is also known as a split hand or split foot.

Ectrodactyly can occur individually and is then often not genetically determined (nonsyndromic form), or can be part of a genetically determined malformation syndrome in combination with other malformations, such as As the Karsch-Neugebauer syndrome with nystagmus or eye abnormalities, the Gollop-Wolfgang syndrome with unilateral hand-ectrodactyly and unilateral femur - bifurcation , the tibial aplasia ectrodactyly syndrome , the ADULT syndrome or Jancar syndrome .

distribution

The frequency is given as 1–9 in 100,000, there are various inheritance patterns and nonsyndromic forms.

causes

So far, the following underlying mutations have been found in the heritable forms :

• SHFM1 at the 7q21.2-q21 chromosome location
• SHFM2 on chromosome Xq26, X-linked - recessive
• SHFM3 on chromosome 10, autosomal dominant inheritance
• SHFM4 with mutations in the TP63 gene on chromosome 3, autosomal dominant inheritance
• SHFM5 on chromosome 2q31

There are also associations with hearing loss (OMIM 605617 ), aniridia (OMIM 106200 ) and Alport's syndrome (OMIM 104200 ). When Patterson-Stevenson-Fontaine syndrome or in MMEP syndrome the ectrodactyly is a key feature.

Clinical manifestations

A combination of syndactyly with oligodactyly , median cleft of hands and feet with opposable fingers or toes result in a "crab claw" aspect.

Division of the split foot

Clinically, the defects can be classified as follows:

• Type I toes II-IV are absent in normal metatarsals
• Type II toes II-IV are absent, partially hypoplastic metatarsals
• Type III Only 4 metatarsals present
• Type IV Only 3 metatarsals present
• Type V Only 2 metatarsals present
• Type VI Monodactyl split foot with only one applied beam

diagnosis

The diagnosis is based on the clinical picture, a more precise classification is based on an X-ray image .

therapy

In most cases there is no functional need for an operation.

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  Right hand of a one month old child with ectrodactyly

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  Right foot of a one month old child with ectrodactyly

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  Both feet of a one year old child with ectrodactyly

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  Right hand of a one year old child with ectrodactyly

See also

• Acrorenal Syndrome
• EEM syndrome
• Gollop-Wolfgang Syndrome

Individual evidence

1. ^ Wilhelm Gemoll : Greek-German school and hand dictionary . G. Freytag Verlag / Hölder-Pichler-Tempsky, Munich / Vienna 1965.
2. ↑ J. Karsch: Hereditary eye malformation in connection with split hand and foot . In: Journal of Ophthalmology . tape 89 , 1936, pp. 274-279 .
3. ↑ H. Neugebauer: Split hand and foot with family peculiarities . In: Journal for orthopedics and their border areas . tape 95 , 1962.
4. ↑ Ectrodactyly. In: Orphanet (Rare Disease Database).
5. ^ W. Blauth: About the treatment of congenital foot malformations In: Journal for Orthopädie and their border areas. Volume 127, Number 1, 1989 Jan-Feb, pp. 3-14, doi: 10.1055 / s-2008-1040081 , PMID 2655332 (review).
6. ↑ F. Hefti: Pediatric Orthopedics in Practice. Springer 1998, ISBN 3-540-61480-X .

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !