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]

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

A case report of a 16-year-old Saudi male presented with four limbs syndactyly of fingers and toes, mild facial dysmorphism, dextroscoliosis, and crossed fused ectopia of the left kidney at the right side is presented here. [go.gale.com]

Presentation It is characterized by a nearly symmetrical presence of a spoon hand (classical type) or, more frequently, an oligodactylous hand. [owlapps.net]

• Enamel Anomaly

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

• Anhidrosis

  Pfeiffer syndrome, Crouzon syndrome, Jackson-Weiss syndrome ) · FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) · INSR ( Donohue syndrome · Rabson–Mendenhall syndrome ) · NTRK1 ( Congenital insensitivity to pain with anhidrosis [dictionary.sensagent.com]

  […] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome) FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome) INSR (Donohue syndrome Rabson–Mendenhall syndrome) NTRK1 (Congenital insensitivity to pain with anhidrosis [theinfolist.com]

  […] syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome ) FGFR3 ( Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome ) INSR ( Donohue syndrome Rabson–Mendenhall syndrome ) NTRK1 ( Congenital insensitivity to pain with anhidrosis [worldlibrary.org]

• 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]

• 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]

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 - 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]

Cenani-Lenz syndactyly - Syndactyly type 7 Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

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]

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]

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]

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]