Polydactyly is a birth defect that results in extra fingers or toes. The hands are more commonly involved than the feet. Extra fingers may be painful, affect self-esteem, or result in clumsiness.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Ellis–Van Creveld syndrome is a rare genetic disorder of the skeletal dysplasia type.
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium.
Short rib–polydactyly syndrome is a family of four closely related dysplasias:
Spondylocostal dysostosis, also known as Jarcho-Levin syndrome (JLS), is a rare, heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul M. Levin at Johns Hopkins University in 1938.
Acropectoral syndrome is an autosomal dominant skeletal dysplasia syndrome affecting the hands, feet, sternum, and lumbosacral spine. A recently proposed candidate gene for preaxial polydactyly is LMBR1, encoding a novel transmembrane receptor, which may be an upstream regulator of SHH. The LMBR1 gene is on human chromosome 7q36.
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome that is usually lethal in the neonatal period. Fryns (1987) reviewed the syndrome.
Polysyndactyly is a congenital anomaly, combining polydactyly and syndactyly, in which affected individuals have an extra finger or toe that is connected, via fusing or webbing, to an adjacent digit.
Mucometrocolpos is the abnormal accumulation of genital secretions (mucus) that occur as a result of an imperforate hymen and the buildup of these secretions behind the hymen. The secretions originate from uterine and cervical glands. It is a rare, congenital condition and usually occurs independent of other abnormal structures though inheritance can play a part in its occurrence. It also occurs with McKusick–Kaufman syndrome (MKS). Polydactyly and heart disease are associated with this condition. Diagnosis is challenging because symptoms also occur in a variety of other syndromes. Secretions can build up and extend as far as the uterus and abdomen. Mucometrocolpos can sometimes cause abdominal distention. The build up of mucous secretions can occur prior to adolescence unrelated to menstruation. Many cases can be detected prenatally. Treatment is surgical and is specific for each case. After treatment, many females are still able to conceive and carry a pregnancy to term.
Polyonychia also known as supernumerary nails is a condition in which two or more nails grow in the same finger or toe.
Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia. This trait is autosomal dominant and often runs in families. Sometimes big toe duplication, post-axial polydactyly, and syndactyly of the hand and feet can occur alongside this malformation Approximately 20 families with the condition have been described in medical literature.
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals. Only 19 affected families worldwide have been recorded in medical literature. It is associated with a heterozygous base pair substitution of A to G in position 404–406, located on intron 5 in the LMBR1 gene.
Cardiocranial syndrome, Pfeiffer type is a rare multiple disorder syndrome characterized by congenital heart defects, sagittal craniosynostosis, and severe developmental delay. The condition has been reported in less than 10 patients worldwide.
