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]

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]

Thoracic scoliosis with hemivertebrae, rib anomalies, and ☞diastematomyelia were present in one case. [accessanesthesiology.mhmedical.com]

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

[…] metacarpals, metatarsals and phalanges, radioulnar synostosis and mesomelic shortness of the limbs, with lower limbs usually being much less affected than upper limbs.Case presentationwe report here two patients, born to consanguineous Sri Lankan parents, present [semanticscholar.org]

• Syndactyly of Second and Third Toes

  second and third toes ( Figure 1 ). [nature.com]

• 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]

• 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]

• Dysplastic Ears

  Facial features may include a high, wide, prominent forehead, large dysplastic ears, malar hypoplasia, downslanting palpebral fissures, hypertelorism, short nose with depressed nasal bridge, short but prominent philtrum, high-arched palate, micro-/retrognathia [accessanesthesiology.mhmedical.com]

• Short Nose

  Mild facial dysmorphism (ptosis, high-arched palate, high, broad and prominent forehead, hypertelorism, flat nasal bridge, down slanting palpebral fissures, short nose, short prominent philtrum and malar hypoplasia) has been described in isolated cases [orpha.net]

  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, large dysplastic ears, malar hypoplasia, downslanting palpebral fissures, hypertelorism, short nose with depressed nasal bridge, short but prominent philtrum, high-arched palate, micro-/retrognathia [accessanesthesiology.mhmedical.com]

• 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, large dysplastic ears, malar hypoplasia, downslanting palpebral fissures, hypertelorism, short nose with depressed nasal bridge, short but prominent philtrum, high-arched palate, micro-/retrognathia [accessanesthesiology.mhmedical.com]

  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 7] and [Figure 8]]. [njps.org]

• 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, large dysplastic ears, malar hypoplasia, downslanting palpebral fissures, hypertelorism, short nose with depressed nasal bridge, short but prominent philtrum, high-arched palate, micro-/retrognathia [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]

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]

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]

Specialist Hospital and Research Center, Riyadh, Saudi Arabia 2Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia 3Spine Department, King Fahad Medical City, Riyadh, Saudi Arabia 4Department of Biostatistics and Scientific Computing, Epidemiology [jmg.bmj.com]

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

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]

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]

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]

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]