| Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly | |
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| Specialty | Medical genetics |
Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly is a very rare autosomal dominant disorder which is characterized by onychodystrophy, anonychia, fifth finger brachydactyly, thumb digitalization, and missing to underdeveloped distal phalanges of the fingers. It has been described in multiple members of a 5-generation English family. [1]
It was first described in a 5-generation family, they had the symptoms mentioned above and metatacarpal and metatarsal underdevelopment. At least two individuals had total absence of the metacarpal bones. [3] [4]
Brachydactyly is a medical term which literally means 'short finger'. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes, a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities.
Hypertryptophanemia is a rare autosomal recessive metabolic disorder that results in a massive buildup of the amino acid tryptophan in the blood, with associated symptoms and tryptophanuria.
Pashayan syndrome, also known as Pashayan–Pruzansky syndrome and blepharo-naso-facial syndrome, is a rare syndrome with Mendelian autosomal dominant inheritance with variable expression. An article describing a family with this syndrome was first published in 1973 in The American Journal of Diseases of Children by Drs Hermine Pashayan, Samuel Pruzansky and Allen Putterman from Abraham Lincoln School of Medicine, University of Illinois in Chicago. Facial abnormalities characterise this syndrome as well as malformation of extremities. Specific characteristics would be a bulky, flattened nose, where the face has a mask like appearance and the ears are also malformed.
Cooks syndrome is a hereditary disorder which is characterized in the hands by bilateral nail hypoplasia on the thumb, index finger, and middle finger, absence of fingernails (anonychia) on the ring finger and little finger, lengthening of the thumbs, and bulbousness of the fingers. In the feet, it is characterized by absence of toenails and absence/hypoplasia of the distal phalanges. In the second study of this disorder, it was found that the intermediate phalanges, proximal phalanges, and metacarpals were unaffected.
Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described by J.A. Keipert and colleagues in 1973. The syndrome is characterized by a misshaped nose, broad thumbs and halluces, brachydactyly, sensorineural hearing loss, facial features such as hypertelorism, and developmental delay.
Ectrodactyly, split hand, or cleft hand involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger with similar abnormalities of the feet.
Munis Dundar is a professor of Medical Genetics and Head of the Medical Genetics Department at Erciyes University, Kayseri, Turkey. He is founder and head of the Medical Genetics Department at Erciyes University and has carried out various administrative tasks since 1996. He defined four genetic syndromes in the medical literature: the “Dundar Syndrome”, “Dundar Acropectoral Syndrome”, “Scoliosis, Blindness and Arachnodactyly Syndrome” and “Multiple Congenital Abnormalities and Mental Retardation Syndrome”. He has taken part as project coordinator and assistant investigator in many research projects and has prepared articles published in international journals since 1995. He is the president of EBTNA and representative from Turkey. He is also the editor-in-chief of The EuroBiotech Journal.
Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities.
Brachydactyly type D, also known as short thumb, stub thumb, or clubbed thumb, is a genetic trait clinically recognised by a thumb being relatively short and round with an accompanying wider nail bed. The distal phalanx of affected thumbs is approximately two-thirds the length of full-length thumbs. It is the most common type of brachydactyly, or shortness of digits, affecting approximately 2–3% of the population, and is associated with the HOXD13 gene, located on chromosome 2q31.1.
Fibular aplasia-ectrodactyly syndrome is a very rare genetic disorder which is characterized by aplasia/hypoplasia of the fibula, ectrodactyly, and/or brachydactyly/syndactyly. Additional symptoms include shortness of the femur and tibial/knee/hip/ankle defects. This disorder is inherited in an autosomal dominant manner.
Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines and hypoplasia of the thumb's distal phalange. It has been described in 4 males from a 2-generation American family. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.
Brachydactyly-long thumb syndrome is a very rare genetic disorder which is characterized by symmetric brachydactyly of the fingers accompanied by an abnormally long thumb, hypomobility of the shoulder and metacarpo-phalangeal joints, and heart conduction defects. Small feet and hands, small shoulders accompanied with short clavicles, clinodactyly, pectus excavatum, mild limb shortening, cardiomegaly, and pulmonic stenosis murmur have also been reported. It was first discovered when D W Hollister et al. described 4 affected members belonging to a 3-generation family. No new cases have been reported since 1981. This disorder is inherited in an autosomal dominant manner.
Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the disorder has been reported in medical literature.
Kirner's deformity, also known as dystelephangy, is an uncommon genetic hand malformation which is characterized by a radial and volar curvature of the distal phalange of the fifth (pinky) finger. It is merely cosmetic and doesn't affect hand function.
Triphalangeal thumbs-brachyectrodactyly syndrome is a very rare limb malformation syndrome of genetic origin which is characterized by polydactyly, syndactyly, brachydactyly, ectrodactyly, triphalangeal thumb and polyphalangism. Onychodystrophy and anonychia are also seen often. 27 cases from seven families from Mexico and the United States have been described in medical literature. It is inherited in an autosomal dominan manner and thought to be caused by mutations in the HOXD13 gene, in chromosome 2.
Coloboma of macula-brachydactyly type B syndrome, also known as Sorbsy syndrome is a rare genetic disorder which is characterized by bilateral macular coloboma, nystagmus of the horizontal pendular type, visual impairment, and brachydactyly type B. Additional findings include congenital anonychia, broad/duplication of the thumbs and big toes, syndactyly and camptodactyly. It is inherited in an autosomal dominant manner. It has been described in 9 members of a 4-generation British family.
Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities. Additional findings include endocrine anomalies and developmental delays.
Heart-hand syndrome, Slovenian type is a rare autosomal dominant genetic disorder belonging to the heart-hand syndromes.
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