Syndactyly Cenani Lenz type

Alternate names

Cenani-Lenz type syndactyly; Cenani syndactylism; Syndactyly type 7

Definition

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.

Epidemiology

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

Cause

• Homozygous or compound heterozygous mutations of the LRP4 gene (11p12-p11.2) have been identified.
• A heterozygous duplication of 1.7 Mb covering the GREM1 and FMN1 genes has also been reported in a CLS-like form of the syndrome.

Inheritance

Autosomal recessive inheritance, a 25% chance

The disease is transmitted as an autosomal recessive trait.

Signs and symptoms

• Classical CLS is characterized by the almost symmetrical presence of a total fusion of fingers and synostosis of the hand bones, giving the hands a mitten-like appearance.
• A variant of the syndrome, with oligodactyly and partial syndactyly, has been reported.
• The following features characterize the syndrome: carpal, metacarpal and digital synostoses, disorganization of the carpal bones, numeric reduction of the digital rays and toe syndactyly.
• Other features are radioulnar synostosis with shortening of the radius and ulna, brachymesomelia, radius head dislocation and metatarsal synostoses.
• The syndrome affects both the upper and lower limbs but, in general, the latter are less severely affected. Associated malformations (renal hypoplasia and vertebral and hemivertebral anomalies) have occasionally been reported.
• A few publications associate CLS with other, more frequent, forms of syndactyly.
• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormality of the metacarpal bones(Abnormality of the long bone of hand)
• Absent fingernail
• Finger syndactyly
• Frontal bossing
• Synostosis of carpal bones(Fusion of wrist bones)

30%-79% of people have these symptoms

• Absent toenail
• Downslanted palpebral fissures(Downward slanting of the opening between the eyelids)
• Hypertelorism(Wide-set eyes)
• Hypoplasia of the radius(Underdeveloped outer large forearm bone)
• Hypoplasia of the ulna(Underdeveloped inner large forearm bone)
• Radioulnar synostosis(Fused forearm bones)
• Short thumb(Short thumbs)
• Toe syndactyly(Fused toes)

5%-29% of people have these symptoms

• Abnormal dermatoglyphics(Abnormal fingerprints)
• Abnormal form of the vertebral bodies
• Abnormality of dental enamel(Abnormal tooth enamel)
• Abnormality of the ribs(Rib abnormalities)
• Cataract(Clouding of the lens of the eye)
• Convex nasal ridge(Beaked nose)
• Crossed fused renal ectopia
• Ectropion(Eyelid turned out)
• Elbow dislocation(Dislocations of the elbows)
• Foot oligodactyly(Missing toes)
• Hearing impairment(Deafness)
• High, narrow palate(Narrow, high-arched roof of mouth)
• Hip dislocation(Dislocated hips)
• Hypodontia(Failure of development of between one and six teeth)
• Hypothyroidism(Underactive thyroid)
• Laryngomalacia(Softening of voice box tissue)
• Malar flattening(Zygomatic flattening)
• Micromelia(Smaller or shorter than typical limbs)
• Nystagmus(Involuntary, rapid, rhythmic eye movements)
• Proptosis(Bulging eye)
• Protruding ear(Prominent ear)
• Ptosis(Drooping upper eyelid)
• Renal hypoplasia/aplasia(Absent/small kidney)
• Scoliosis
• Short nose(Decreased length of nose)
• Short philtrum

Diagnosis

Diagnosis is essentially clinical.

Differential diagnosis CLS can be distinguished clinically from other limb malformations.

Antenatal diagnosis Diagnosis can be suspected antenatally by ultrasonography. As an autosomal recessive syndrome, recurrence risk for CLS is 25% for a subsequent pregnancy.

Treatment

Surgical treatment with reconstruction of an individualized finger is recommended but the functional results of syndactyly release may be unsatisfactory.

Prognosis

Functional prognosis depends on the specific limb anomalies of the patient.

NIH genetic and rare disease info

• NIH info on Syndactyly Cenani Lenz type

Syndactyly Cenani Lenz type is a rare disease.

Syndactyly Cenani Lenz type Resources
Need Help Finding a Doctor? Need help finding a doctor or specialist anywhere in the world? Explore our world directory. WikiMD's DocFinder can assist you in locating millions of physicians.	Medical Knowledge Access the latest research - Most recent articles Ongoing trials.

Translate to: East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski