Radioulnar synostosis i may be present. Cases lacking radioulnar synostosis may show proximal dislocation of the radial heads. The distal i limb anomalies seen in our patient resemble other reported CLS patients. [kabukisyndrome.com]

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

Here we present two sibling fetuses with a prenatal lethal presentation of mesomelic limb reductions, oligosyndactyly, genitourinary malformation and compound heterozygosity for two novel truncating mutations in LRP4. [typeset.io]

Case presentation: we report here two patients, born to consanguineous Sri Lankan parents, present with bilateral postaxial oligodactyly limited to upper limbs. [researchinformation.amsterdamumc.org]

• Short Finger

  They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, [rarediseases.info.nih.gov]

• Saddle Nose

  Trigonocephaly Craniofacial dysostosis: Crouzon syndrome Hypertelorism Hallermann–Streiff syndrome Treacher Collins syndrome other: Macrocephaly Platybasia Craniodiaphyseal dysplasia Dolichocephaly Greig cephalopolysyndactyly syndrome Plagiocephaly Saddle [theinfolist.com]

  nose Vertebral column spinal curvature (Scoliosis) · Klippel-Feil syndrome · Spondylolisthesis · Spina bifida occulta · Sacralization Thoracic skeleton ribs: Cervical · Bifid sternum: Pectus excavatum · Pectus carinatum M: JNT anat(h/c, u, t, l)/phys [dictionnaire.sensagent.leparisien.fr]

  nose Vertebral column spinal curvature Scoliosis Klippel–Feil syndrome Spondylolisthesis Spina bifida occulta Sacralization Thoracic skeleton ribs : Cervical Bifid sternum : Pectus excavatum Pectus carinatum Index of joint Description Disease Treatment [worldebooklibrary.net]

• Prolapse

  Onat A, Dursunoglu D, Aktuglu G (1994) Homozygous factor X deficiency associated with familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy. Acta Haematol 9: 66-69. [omicsonline.org]

• Blepharoptosis

  The syndrome is characterized by: radioulnar synostosis, blepharophimosis, blepharoptosis, clinodactyly of fifth finger, Dubois sign and short stature; it corresponds to Jorgenson-Lenz syndrome, reported in 1974 and catalogued like a ectodermal dismorphy [medigraphic.com]

• Hearing Impairment

  impairment Ectropion Hip dislocation Finger syndactyly Meningitis Hypothyroidism Short nose Ptosis Pyloric stenosis Abnormal facial shape Cataract Depressed nasal bridge Downslanted palpebral fissures Failure to thrive Frontal bossing Death in infancy [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]

• Hypertelorism

  Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. [ncbi.nlm.nih.gov]

  […] ectrodactyly of fingers - Syndactyly of fingers / interdigital palm - Synostosis Frequent - Absent / small toenails / anonychia of feet - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal bossing / prominent forehead - Hypertelorism [csbg.cnb.csic.es]

  Name Cenani-Lenz Syndactyly Syndrome Synonyms CENANI SYNDACTYLISM, CENANI-LENZ SYNDACTYLY, SYNDACTYLY, TYPE VII Classification bone, developmental, genetic Phenotypes Autosomal recessive inheritance ; Downslanted palpebral fissures ; Hypertelorism ; Hypoplasia [mousephenotype.org]

• Depressed Nasal Bridge

  Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. [ncbi.nlm.nih.gov]

  Facial features may include a high, wide, prominent forehead, hypertelorism, downslanting palpebral fissures, short nose with depressed nasal bridge, short but prominent philtrum, and malar hypoplasia. [accessanesthesiology.mhmedical.com]

  {Figure 1}{Figure 2}{Figure 3}{Figure 4}{Figure 5} In addition, he had dextroscoliosis [Figure 6] and pseudotail of the coccyx at the back, and mild facial dysmorphism included broad forehead, depressed nasal bridge, and prominent upper incisors [[Figure [proquest.com]

• High and Prominent Forehead

  Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. [ncbi.nlm.nih.gov]

  Facial features may include a high, wide, prominent forehead, hypertelorism, downslanting palpebral fissures, short nose with depressed nasal bridge, short but prominent philtrum, and malar hypoplasia. [accessanesthesiology.mhmedical.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]

(July 2017) Treatment[edit] This section is empty. You can help by adding to it. [theinfolist.com]

Treatment : How to Treat "cenani lenz syndactylism"? Treatment options may include therapies and/or surgical procedures to correct the malformation. Causes Cenani Lenz syndactylism shows autosomal recessive heredity as one cause. [signssymptoms.org]

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. Visit the Orphanet disease page for more resources. [rareguru.com]

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. [proquest.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 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.es]

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 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]

[…] mutations associated with C-L syndrome, classify its clinical features, review familial adenomatous polyposis caused by truncating APC mutations and compare these mutations to the splicing APC mutation associated with syndactyly, and finally, explore the pathophysiology [pubmed.ncbi.nlm.nih.gov]

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.es]

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 with [en.wikipedia.org]