Richieri-Costa/guion-Almeida Syndrome
Description
The Richieri-Costa/Guion-Almeida syndrome is characterized by mild mental retardation, short stature, microbrachycephaly, ptosis, esotropia, cleft lip/palate (Richieri-Costa and Guion-Almeida, 1992).
Clinical FeaturesRichieri-Costa and Guion-Almeida (1992) described 3 Brazilian brothers with short stature, microbrachycephaly, mental retardation, prominent supraorbital ridges, asymmetric palpebral fissures, palpebral ptosis, deep-set eyes, coloboma of iris and retina, nystagmus, strabismus, malar hypoplasia, and cleft lip/palate.
Richieri-Costa et al. (1992) described 2 Brazilian sisters with a combination of clinical signs interpreted as representing a 'new' autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome. Features included short stature, mental retardation, microbrachycephaly, temporal narrowness, thin/long face, hypotelorism, palpebral ptosis, strabismus, abnormal ears, marked hypoplasia of the midface, cleft lip, obtuse angle of the mandible, large and prominent chin, pectus excavatum, minor acral anomalies, wrinkled skin of hands and feet, lymphedema, abnormally modeled lumbosacral and pelvic bones, and lumbar lordosis.
Natacci et al. (1999) described a boy with short stature, mental retardation, microbrachycephaly, palpebral ptosis, asymmetric and downslanted palpebral fissures, deep-set eyes, strabismus, coloboma of the iris, malar hypoplasia, cleft lip/palate, prominent mandible, and deafness. Natacci et al. (1999) suggested that this phenotype was the same as that described by Richieri-Costa and Guion-Almeida (1992) in 3 Brazilian brothers. Nystagmus and retinal coloboma were the only minor signs shared by the Brazilian brothers but not observed in this boy, and the boy had deafness, which was not reported in the brothers.
Castori et al. (2011) described a 17-year-old man with mental retardation, microcephaly, prominent supraorbital ridges, deep-set eyes, ptosis, esotropia, asymmetric palpebral fissures, nystagmus, cleft eyelid, malar hypoplasia, cleft lip/palate, and spina bifida occulta. Audiometric exam, standard peripheral karyotype, 22q11.2 rearrangement investigation, and a 200-kb CGH array were all normal. Brain MRI was unremarkable with normal anterior-posterior diameter on both eyes. Castori et al. (2011) suggested classifying the patients described by Richieri-Costa and Guion-Almeida (1992) and Natacci et al. (1999) as Richieri-Costa/Guion-Almeida syndrome type 1 (RCGAS1) and the patients described by Richieri-Costa et al. (1992) as Richieri-Costa/Guion-Almeida syndrome type 2 (RCGAS2). Castori et al. (2011) noted that mental retardation, short stature, microbrachycephaly, ptosis, and esotropia are present in both RCGAS1 and RCGAS2, but suggested that the overall facial dysmorphism in each is distinct. In RCGAS1, eyelid ptosis is strikingly asymmetrical and is combined with prominent supraorbital ridges/deep-set eyes and a highly penetrant cleft lip/palate. RCGAS2 shows more severe shortness of the anterior-posterior diameter of the cranial vault as well as hypoplastic supraorbital ridges, a long, thin face, pointed chin, and obtuse mandibular angle; in addition, ptosis is symmetrical, cleft lip is not consistent feature, the palate is normal, and there are mild anomalies of the limbs and axial skeleton. Castori et al. (2011) also noted that their patient had features of both RCGAS1 and RCGAS2, but most closely resembled RCGAS1, and had some different features such as spina bifida occulta and absence of short stature. Castori et al. (2011) stated that it was unclear whether the phenotypes they discussed in their report represent separate entities or variability of a single entity.
InheritanceRichieri-Costa and Guion-Almeida (1992) described 3 Brazilian brothers with short stature, mental retardation, eye anomalies, and cleft lip/palate. The parents were not affected. The authors suggested either autosomal recessive or X-linked recessive inheritance of the disorder.
Richieri-Costa et al. (1992) suggested autosomal recessive inheritance of an MCA/MR syndrome in 2 Brazilian sisters whose parents were unaffected.