The clinical picture is variable and manifests into two forms. Patients with lobster claw type lack the third digit [4], which is replaced by a cleft. Additionally, the fingers on either side are typically webbed together. Both hands are involved and the feet are frequently affected.

The second variant is characterized by monodactyly as only the fifth finger is present [7]. There is also a type that includes sensorineural deafness [8].

Syndromic cases exhibit a cluster of manifestations that may include cleft lip/palate, ectodermal dysplasia, and other ectodermal defects due to genetic rearrangement.

• Short Stature

  Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3 IF: 2,536 Autorzy: Aleksander Jamsheer, Anna Sowińska, Małgorzata Jamsheer-Bratkowska [projekty.ncn.gov.pl]

  stature,[ 9 ] glaucoma, and blindness.[ 10 ] The cosmetic aspects of EEC can have a tremendous impact on quality of life. [parjournal.net]

  ZAKI SYNDROME MedGen UID: 1794247 •Concept ID: C5562037 • Disease or Syndrome Zaki syndrome (ZKS) is characterized by developmental delay, progressive microcephaly, and short stature, as well as dysmorphic features including sparse scalp hair, cupped [ncbi.nlm.nih.gov]

  Growth Growth retardation is a common prenatal and postnatal finding, resulting in low birth weight [ 2, 6, 7 ], weight deficiency often in conjunction with feeding difficulties [ 1 – 3, 7 ], and short stature [ 1, 6, 7 ]. [ojrd.biomedcentral.com]

  In brachysymphalangism, the digits are short as well as stiff. Syndromic symphalangism may be related to specific syndromes, particularly Poland and Apert syndromes. [emedicine.medscape.com]

• Falling

  […] where a tree falls on the car and kills her dad and their dog or something – not really clear about this part. She wakes up on a farm, where a dad and two sons nurse her back to health. [smartbitchestrashybooks.com]

  Milder cerebral midline defects including isolated corpus callosum agenesis or arhinencephaly (the absence of olfactory bulbs and tracts) have also been classified as falling within the HPE spectrum, at least in some instances. 1 Ectrodactyly, also known [jmg.bmj.com]

  FlyBase Computed Cytological Location Cytogenetic map Evidence for location Experimentally Determined Cytological Location Cytogenetic map Notes References Experimentally Determined Recombination Data Please Note This section lists cDNAs and ESTs that fall [flybase.org]

  Approximately one half of cases with multiple anomalies fall into known syndromes. [emedicine.medscape.com]

• Hearing Impairment

  The deletions in 7q can lead to a host of problems like: Growth defects Cranio-facial abnormalities Hearing impairment Mental retardation Microcephaly Hernia In most of these situations, this defect is associated with other abnormalities and syndromes [hxbenefit.com]

  Early identification of individuals at risk for speech disorders related to cleft palate, hearing impairment or other adverse conditions. [context.reverso.net]

  Additional manifestations include hearing impairment and urinary tract anomalies. 1 Our aim was to describe a rare case of siblings affected by EEC syndrome presenting normal parents. [scielo.br]

• Foot Deformity

  Known also as split-hand/foot deformity, lobster claw. There are several varieties and the pattern of inheritance is usually irregular. [ ectro- + G. daktylos, finger] ectrodactyly congenital absence of one or more digits ectrodactyly [medical-dictionary.thefreedictionary.com]

  The presence of ectodermal dysplasia symptoms increases the risk of complications in cleft surgery and treatment of hand and foot deformities or orbital area malformations. [ncbi.nlm.nih.gov]

  Wood found that 9 of 20 patients with cleft hand deformity also had cleft foot deformity ( 8 ). [musculoskeletalkey.com]

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

• Hand Deformity

  Clinical description The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes [orpha.net]

  Wood found that 9 of 20 patients with cleft hand deformity also had cleft foot deformity ( 8 ). [musculoskeletalkey.com]

  ECTRODACTYLY (CLEFT HAND / FOOT) Ectrodactyly is characterized by the absence of digits (ranging from absence of a single finger, the split hand deformity or absence of all but the fifth digit). [fetalultrasound.com]

• Fracture

  Football Rehabilitation Kabaddi Rehabilitation Badminton Rehabilitation Hockey Rehabilitation Cycling Rehab Golf Rehabilitation Paediatric Rehabilitation Cerebral Palsy Delayed Milestone Brachial Plexus Muscular Dystrophy Post Surgical Rehabilitation Fracture [physioline.in]

  Abstract Favorites PDF Get Content & Permissions Intraoperative Neuromonitoring for Brachial Plexus Neurolysis During Delayed Fixation of a Clavicular Fracture Presenting as Thoracic Outlet Syndrome: A Case Report Ashman, Bradley D.; Tewari, Anurag; Castle [caseconnector.jbjs.org]

• Disorder of Digit

  This type is associated with a variety of generalized conditions, as follows: Arthrogryposis Craniofacial disorders Orofacial digital syndrome Craniocarpotarsal dystrophy (Freeman-Sheldon syndrome) Oculodentodigital dysplasia Oculopalatodigital syndrome [emedicine.medscape.com]

• Heel Pain

  Rehabilitation Back Pain Knee Pain / Arthritis Pain Neck Pain Shoulder Pain Heel Pain Ankle Pain Elbow Pain Hip Pain Orthopaedic Rehabilitation Cervical spondylosis Lower back pain Sciatica Knee Osteoarthritis Frozen Shoulder Plantar Fasciitis Lumbar [physioline.in]

The clinical assessment consists of the history, physical exam, and the appropriate studies if needed. The features are present at birth and therefore the deformity is apparent. Due to the overlap with other conditions, the newborn will be examined thoroughly to determine if there are other congenital anomalies present.

Prenatal diagnosis

The use of ultrasonography for a survey of the fetal anatomy [9] can detect the abnormality. Additionally, prenatal tests such as amniocentesis and chorionic villus sampling (CVS) will confirm the diagnosis.

Imaging

Radiography will reveal details about missing bones, tendons, and other structures.

Other

Syndromic forms will require additional testing such as skin biopsy.

Patients with ectrodactyly should be managed by a team of pediatricians, orthopedic and plastic surgeons, as well as other professionals. Treatment is individualized based on the specific physical features and disabilities. Surgical correction of the deformity is commonly performed [10] to improve function and appearance. Surgeons aim to close the cleft and rearrange the bones, skin, and tissues. The repair may require subsequent reconstructive procedures.

Other

Early physical and occupational therapy will benefit the child. Also, the use of prosthetics may be helpful.

When ectrodactyly is an isolated condition, it does not impact the patient's life expectancy but it does pose physical challenges. The syndromic form may present certain difficulties depending on associated anomalies, but the prognosis is overall good.

The condition is transmitted in an autosomal dominant pattern [3] although autosomal recessive, sex-linked, and sporadic mutations have been observed. The genetic abnormalities involve a specific region containing homeobox genes DLX5 and DLX6, which are developmental regulatory genes located on chromosome 7 [4].

The prevalence of ectrodactyly is approximately 1 in 8,500 to 1 in 25,000 newborns [5].

Limb development occurs during the 4th week through the 8th week of the gestational period [6]. Through the extensive paddle, plate, and rotational stages, limbs form and grow. Future hands and feet emerge from plates on limb buds while digital rays represent future finger and toes. Normally, cells between rays will undergo apoptosis to free the digits. In the absence of this function, the digits will not separate and hence ectrodactyly presents.

This condition cannot be prevented however genetic counseling is offered to patients and family members.

Ectrodactyly is a rare congenital abnormality of the limb, which is characterized by the absence of the intermediate finger and the presence of a hand cleft. The deformity resembles a lobster claw [1] [2]. Ectrodactyly can develop as part of a syndrome or in isolation. The diagnosis is achieved based on the physical features and history. This condition can also be detected prenatally with the widespread use of ultrasonography. Treatment may include reconstructive surgery and physical /occupational therapy.

Ectrodactyly is a condition in which the hands and feet are not properly developed as there is usually a missing third finger and cleft in the hand, which looks like a lobster claw. This condition may be inherited from an affected parent. The diagnosis is apparent in a newborn due to obvious deformity. The doctor will perform a complete exam to determine if other abnormalities are present. The treatment is usually surgery to correct the appearance and improve the function. Physical and occupational therapy is important as well.

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2. Temtamy SA, McKusick VA. The Genetics of Hand Malformations. New York. Alan R. Liss (pub.) 1978.
3. Pascal HG. Pathogenesis of split-hand/split-foot malformation. Human Molecular Genetics. 2003; 12(1):R51–R60.
4. Wieland I, Muschke P, Jakubiczka S, Volleth M, Freigang B, Wieacker P. Refinement of the deletion in 7q21.3 associated with split hand/foot malformation type 1 and Mondini dysplasia. Journal of Medical Genetics. 2004;41(5):e54.
5. Gurrieri F, Everman DB. Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update. American Journal of Medical Genetics A. 2013;161A(11):2860–2872.
6. Duijf P, van Bokhoven H, Brunner HG. Pathogenesis of
   split-hand/split-foot malformation. Human Molecular Genetics. 2003; 12(suppl 1):R51–R60.
7. Bujdoso G, Lenz W. Monodactylous splithand-splitfoot: a malformation occurring in three distinct genetic types. Europopean Journal of Pediatrics. 1980; 133(3):207-215.
8. Haberlandt E, Loffler J, Hirst-Stadlmann A, et al. Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3. Journal of Medical Genetics. 2001;38(6):405-409.
9. Pinette M, Garcia L, Wax JR, et al. Familial ectrodactyly. Journal of Ultrasound in Medicine. 2006; 25(11):1465–7.
10. Kay SP, McCombe D. Central hand deficiencies. In: Green, David P, Hotchkiss, et al. Green's Operative Hand Surgery (5th ed.). Philadelphia: Elsevier/ Churchill Livingstone. 2005; pp. 1404–15.