An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. [ncbi.nlm.nih.gov]

The patients feet presented bilateral syndactyly of the first and second and of the fourth and fifth toes and hypoplasia of the third toe. The patient presents recurrent infections and normal NPMD. Karyotype: 46,XX. [ashg.org]

The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome. [doi.org]

In our patient, due to his syndactyly, it was difficult to determine whether the right thumb was present or absent. [updoc.site]

• Enamel Anomaly

  Abnormal dermatoglyphics - Agenesis / hypoplasia / aplasia of kidneys - Anodontia / oligodontia / hypodontia - Beaked nose - Cataract / lens opacification - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Enamel [csbg.cnb.csic.es]

• Carpal Bone Fusion

  bones fusion / synostosis - Metacarpal anomalies / Archibald's sign - Oligodactyly / ectrodactyly of fingers - Syndactyly of fingers / interdigital palm - Synostosis Frequent - Absent / small toenails / anonychia of feet - Downslanted palpebral fissures [csbg.cnb.csic.es]

  bones Fusion of wrist bones 0005048 30%-79% of people have these symptoms Absent toenail 0001802 Downslanted palpebral fissures Downward slanting of the opening between the eyelids 0000494 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 [rarediseases.info.nih.gov]

• Medially Flared Eyebrows

  On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse medially flared eyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated [ashg.org]

• Sparse to No Eyebrows

  On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse medially flared eyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated [ashg.org]

• Calcinosis Cutis

  cutis (see also CREST… … Wikipedia [enacademic.com]

• Cafe-Au-Lait Spots

  au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia [enacademic.com]

• Hearing Impairment

  Most common symptoms of CENANI-LENZ SYNDACTYLY SYNDROME; CLSS Autosomal recessive inheritance Pica Hearing impairment Scoliosis Hypertelorism More info about CENANI-LENZ SYNDACTYLY SYNDROME; CLSS SOURCES: MONDO ORPHANET GARD DOID UMLS SCTID OMIM MESH [mendelian.co]

  impairment Deafness Hearing defect [ more ] 0000365 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hypodontia Failure of development [rarediseases.info.nih.gov]

• Beak Nose

  nose - Cataract / lens opacification - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Enamel anomaly - Flat cheek bones / malar hypoplasia - Hearing loss / hypoacusia / deafness - High vaulted / narrow [csbg.cnb.csic.es]

  nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Crossed fused renal ectopia 0004736 Ectropion Eyelid turned out 0000656 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Foot oligodactyly [rarediseases.info.nih.gov]

Management and treatment Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory. [orpha.net]

An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented. [ncbi.nlm.nih.gov]

Prognosis Functional prognosis depends on the specific limb anomalies of the patient. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis - Syndactyly Cenani Lenz type Not supplied. Treatment - Syndactyly Cenani Lenz type Not supplied. Resources - Syndactyly Cenani Lenz type Not supplied. [checkorphan.org]

Etiology The disease is transmitted as an autosomal recessive trait. Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified. [orpha.net]

[…] remains obscure, however, there are several reports that might explain the etiology of the disease. [njps.org]

Summary Epidemiology Fewer than 30 cases have been described and the exact incidence has not been evaluated. The majority of cases occurred in related families. [orpha.net]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

D Jordan, S Hindocha, M Dhital, M Saleh and W Khan, The Epidemiology, Genetics and Future Management of Syndactyly, The Open Orthopaedics Journal, 10.2174/1874325001206010014, 6, 1, (14-27), (2012). [doi.org]

The defect is also classified as Type III clinodactyly. 1,3,5 Pathophysiology Affects fingers more commonly than toes; most common in the proximal phalanx of the thumb and middle phalanx of the little finger Caused by secondary center of ossification [handsurgeryresource.com]

Pulkkinen and Uitto (1999) reviewed the pathophysiology and phenotypic and genetic heterogeneity of the various forms of epidermolysis bullosa. [mendelian.co]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Prevention - Syndactyly Cenani Lenz type Not supplied. Diagnosis - Syndactyly Cenani Lenz type Not supplied. Prognosis - Syndactyly Cenani Lenz type Not supplied. Treatment - Syndactyly Cenani Lenz type Not supplied. [checkorphan.org]

Timing Syndactyly of the border digits (thumb/ index finger or ring/ small fingers) is treated at early age to prevent the larger digit from curving towards the smaller digit with growth. [en.academic.ru]

Radiograph of Type 1 syndactyly of the hands (no bony involvement) Management [ edit ] Syndactyly of the border digits (thumb/index finger or ring/small fingers) is treated at early age to prevent the larger digit from curving towards the smaller digit [en.wikipedia.org]