oligodactyly

Roberts Syndrome

Clinical Characteristics
Ocular Features: 

The eyes often appear prominent as the result of shallow orbits.  Hypertelorism and microphthalmia can be present.  The sclerae can have a bluish hue.   Cataracts and central corneal clouding plus scleralization and vascularization of the peripheral corneas are sometimes seen.  Lid colobomas and down-slanting palpebral fissures may be present.

Systemic Features: 

Failure of both membranous and long bones to grow properly lead to a variety of abnormalities such as craniosynostosis, hypomelia, syndactyly, oligodactyly, malar hypoplasia, short neck, micrognathia, and cleft lip and palate.  The long bones of the limbs may be underdeveloped or even absent.  Contractures of elbow, knee, and ankle joints are common as are digital anomalies.  Low birth weight and slow postnatal growth rates are usually result in short stature.  The hair is often sparse and light-colored. 

Mental development is impaired and some children are diagnosed to have mental retardation.  Cardiac defects are common.  Facial hemangiomas are often present as are septal defects and sometimes a patent ductus arteriosus.  External genitalia in both sexes appear enlarged.  The kidneys may be polycystic or horseshoe-shaped.

Genetics

This is an autosomal recessive condition caused by mutations in the ESCO2 gene (8p21.1).  Mutations in the same gene are also responsible for what some have called the SC phocomelia syndrome (269000) which has a similar but less severe phenotype.  Some consider the two disorders to be variants of the same condition and they are considered to be the same entity in this database.  The gene product is required for structural maintenance of centromeric cohesion during the cell cycle.  Microscopic anomalies of the centromeric region (puffing of the heterochromatic regions) are sometimes seen during cell division.

The Baller-Gerold syndrome (218600) has some phenotypic overlap with Roberts syndrome but is caused by mutations in a different gene (RECQL4).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

Severely affected infants may be stillborn or die in infancy.  Other individuals live to adulthood.  There is no treatment for this condition beyond specific correction of individual anomalies.

References
Article Title: 

Fibrosis of Extraocular Muscles, Tukel CFEOM Syndrome

Clinical Characteristics
Ocular Features: 

A single consanguineous Turkish family with six affected individuals with non-progressive restrictive ophthalmoplegia, ptosis, and ulnar hand anomalies has been reported.  The restriction of ocular motility and ptosis was most pronounced on the right side.  Four patients had a combination of 12-18 PD XT and 25 PD hypotropia (OD).  Visual acuity was 20/20 in at least one eye while 3 had 5/200 or 20/200 in the right eye.  Restriction of elevation of the right eye was noted and this was more pronounced on adduction.  The dysfunctional extraocular muscles were determined to be the superior rectus and/or the inferior oblique.  Forced ductions were usually negative.  All patients had a head tilt or turn and three had some degree of ptosis with restriction of elevation. 

Systemic Features: 

Hand anomalies consisting of post-axial (ulnar) digital anomalies were most pronounced on the right side.  The 5th digit was hypoplastic or missing from all hands, right and left, while various wrist bones were absent or anomalous primarily in the right hand.  One patient had syndactyly of the 4th and 5th fingers on the left hand and another had both 4th and 5th fingers missing from the left hand.

Genetics

The consanguinity in this Turkish kindred suggests autosomal recessive inheritance.  A locus at 21qter has been associated with the disorder but no specific mutation has been found. 

Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM3C (609384), CFEOM5 (616219), and CFEOM with synergistic divergence (609612).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported but it is likely that some cosmetic and head position improvement could be achieved with muscle and ptosis surgery. 

References
Article Title: 
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