An oligodactylous variant of Cenani-Lenz syndactyly and its surgical treatment is presented.[ncbi.nlm.nih.gov]
The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.[doi.org]
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]
In our patient, due to his syndactyly, it was difficult to determine whether the right thumb was present or absent.[updoc.site]
On physical examination, the findings were: downslanting palpebral fissures, eversion of the lower lids, long eyelashes, sparse mediallyflaredeyebrows, depressed nasal root, anteverted nostrils, long philtrum, thin upper lip, persistence of pads, spatulated[ashg.org]
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]
Most common symptoms of CENANI-LENZ SYNDACTYLY SYNDROME; CLSS Autosomal recessive inheritance Pica Hearingimpairment Scoliosis Hypertelorism More info about CENANI-LENZ SYNDACTYLY SYNDROME; CLSS SOURCES: MONDO ORPHANET GARD DOID UMLS SCTID OMIM MESH[mendelian.co]
Impairment, External Ophthalmoplegia, And Thrombocytopenia OORS 147750 Genetic Test Registry Jackson-Weiss Syndrome Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities JWS 123150 Genetic Test Registry Joubert Syndrome 10 JBTS10 300804 Genetic[ukgtn.nhs.uk]
He has no noticeable facial dysmorphism, renalimpairments or cognitive impairments. The second child (II.2), a 16-year-old boy, was normal.[bmcmedgenet.biomedcentral.com]
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]
Possible healthcare treatment Options Treatment options may consist of potential treatments and/or surgical procedures to correct the malformation. Please talk with your registered doctor for guidance.[besttreatmenthq.com]
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 Functional prognosis depends on the specific limb anomalies of the patient. Last updated: 8/26/2011[rarediseases.info.nih.gov]
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]
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.[rarediseases.info.nih.gov]
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).[www3.interscience.wiley.com]
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]