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Goodman Syndrome

Synonyms of Goodman Syndrome

  • ACPS IV
  • Acrocephalopolysyndactyly Type IV

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Goodman Syndrome (Acrocephalopolysyndactyly Type IV) is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. The syndrome is inherited as an autosomal recessive trait. Some researchers feel that Goodman Syndrome is a variant of Carpenter Syndrome (Acrocephalopolysyndactyly Type II).

Symptoms

In Goodman Syndrome, the fibrous joints between the bones in the skull (cranial sutures) close prematurely (craniosynostosis), causing the head to grow upward. As a result, the head appears long, narrow, and pointed at the top. Characteristic facial abnormalities include a prominent nose, large ears that protrude, highly arched eyebrows, slightly slanted eyelid folds (palpebral fissures), and vertical skin folds on either side of the nose (epicanthal folds) that may cover the eyes' inner corners.

Goodman Syndrome is also characterized by several abnormalities of the hands and feet, including webbed fingers and/or toes (syndactyly); more than the normal number of fingers (postaxial polydactyly); and fifth fingers (digits) that are abnormally bent (clinodactyly) and permanently flexed (camptodactyly). Other features include a deviation of one of the bones of the forearm (ulna), knees that may be abnormally close together and ankles that are abnormally far apart (genu valgum), and congenital heart disease. All affected individuals described in the medical literature have exhibited normal intelligence.

Causes

Goodman Syndrome is inherited as an autosomal recessive trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Goodman Syndrome is named after the investigator (RM Goodman) who, along with colleagues, described the disease entity in 1979 in three of eight children of closely related (consanguineous) parents. These appear to remain the only cases recorded in the medical literature to date.

Related Disorders

Symptoms of the following disorders can be similar to those of Goodman Syndrome. Comparisons may be useful for a differential diagnosis:

Acrocephalopolysyndactyly (ACPS) is a group of very rare genetic disorders including Noack Syndrome (Type I), Carpenter Syndrome (Type II), Sakati Syndrome (Type III), and Goodman Syndrome (Type IV). All of these types are characterized by a long, narrow head that appears pointed at the top (acrocephaly), more than the usual number of fingers and/or toes (polydactyly), and webbing of fingers and/or toes (syndactyly).

Pfeiffer Syndrome (Acrocephalosyndactyly Type V) is generally accepted to be the same condition as Noack Syndrome (Acrocephalopolysyndactyly Type I). It is a very rare genetic disorder characterized by a short, pointed, or cone-shaped head (acrobrachycephaly) and abnormalities of the face, jaws, and teeth. Individuals with Pfeiffer Syndrome may also have webbed fingers or toes (syndactyly), additional abnormalities of the thumbs and big toes, and a mild hearing loss. Intelligence is usually normal. Pfeiffer Syndrome is inherited as an autosomal dominant trait. (For more information on this disorder, choose "Pfeiffer" as your search term in the Rare Disease Database.)

Carpenter Syndrome (Acrocephalopolysyndactyly Type II) is a very rare inherited disorder characterized by a long, narrow head (acrocephaly); abnormally short, webbed fingers (brachysyndactyly); and feet with more than five toes that may also be webbed (polysyndactyly). Affected individuals have characteristic downslanted eyes, a flattened nasal bridge, broad cheeks, low-set ears, and underdeveloped jaw bones (hypoplastic mandible). Other features may include mild obesity, mental retardation, protrusion of portions of the intestines through the abdominal wall (abdominal hernias), underdeveloped sex organs (hypogenitalism), and congenital heart disease. Carpenter Syndrome is inherited as an autosomal recessive trait.

Deciding between the diagnosis of Carpenter Syndrome (Acrocephalopolysyndactyly Type II) and Goodman Syndrome (Acrocephalopolysyndactyly Type IV) is difficult. Some researchers feel that Goodman Syndrome is a variant of Carpenter Syndrome. They believe that the presence of permanently flexed (camptodactyly) and abnormally bent fingers (clinodactyly) with a deviation of one of the forearm bones (ulna) is mainly what distinguishes Goodman Syndrome from Carpenter Syndrome. (For more information on this disorder, choose "Carpenter" as your search term in the Rare Disease Database.)

Sakati Syndrome (Acrocephalopolysyndactyly Type III) is also known as Sakati-Nyhan Syndrome or Acrocephalopolysyndactyly with leg hypoplasia. It is an extremely rare inherited disorder characterized by malformation of the head (acrocephaly); feet with more than five toes that may be webbed (polysyndactyly); and hands with extra and abnormally short fingers (brachypolydactyly). Deformities of the legs are also present, including bowed thigh bones (femurs); abnormally shaped, displaced calf bones (fibulas); and underdeveloped shin bones (hypoplastic tibias). Facial abnormalities include protruding eyes, an elongated nose, large, low-set ears, and a prominent forehead. Other conditions associated with this disorder include dental crowding, an underdeveloped upper jaw bone (maxillary hypoplasia), a short neck with a low hairline, absence of hair (alopecia), and congenital heart disease. Intelligence is usually normal. Sakati Syndrome is thought to be caused by a genetic change (mutation) in mature parents that occurs for no apparent reason (sporadic). (For more information on this disorder, choose "Sakati" as your search term in the Rare Disease Database.)

Summitt Syndrome is a very rare genetic disorder characterized by premature closure of the bones in the skull (craniosynostosis), which gives the head a long, narrow appearance (acrocephaly). Other features include webbing of the fingers and/or toes (syndactyly), obesity, and unimpaired intelligence. The syndrome is inherited as an autosomal recessive trait. Some researchers feel that Summitt Syndrome may be another variant of Carpenter Syndrome. (For more information on this disorder, choose "Summitt" as your search term in the Rare Disease Database.)

Juberg-Hayward Syndrome (Orocraniodigital Syndrome) is a rare hereditary disorder characterized by cleft lip and palate, a small head, deformities of the thumbs and toes, and growth hormone deficiency resulting in short stature. The syndrome is thought to be inherited as an autosomal recessive trait.

Nager Syndrome (Nager Acrofacial Dysostosis Syndrome) is a rare hereditary disorder that is characterized by underdevelopment of the cheek and jaw, downsloping of the opening of the eyes, absent lower eyelashes, underdeveloped internal and external ears with related hearing problems, and cleft palate. There may be underdevelopment or absence of the thumb, shortened forearms, and poor movement in the elbow. Although the exact cause of this syndrome is not known, scientists believe that it may be a hereditary disorder transmitted as an autosomal recessive or dominant genetic trait. (For more information on this disorder, choose "Nager" as your search term in the Rare Disease Database.)

Oral-Facial-Digital Syndrome (OFD) is a rare genetic disorder characterized by many episodes of neuromuscular disturbances, cleft palate and other facial abnormalities, malformations of the hands and feet, shortened limbs, and various degrees of mental retardation. The exact cause of Oral-Facial-Digital Syndrome is not known, although it is suspected to be inherited as an autosomal recessive trait or as an X-linked dominant genetic trait. (For more information on this disorder, choose "Oral-Facial-Digital" as your search term in the Rare Disease Database.)

Antley-Bixler Syndrome is a very rare disorder that is characterized by the abnormal union of adjacent bones (skeletal fusions) in several areas of the body. Individuals with this syndrome exhibit a premature closing of the bones of the skull (craniosynostosis), an incompletely developed midface (hypoplasia), a union between the adjacent bones of the upper and lower arm (radiohumeral synostosis), and fingers that are permanently flexed (camptodactyly). Bowing of the thigh bones (femurs) and fractures of the hip bones are usually present in newborns with this disorder. Affected individuals also exhibit a characteristic facial appearance and ear shape. Although the exact cause of Antley-Bixler Syndrome is not known, it is believed to be inherited as an autosomal recessive genetic trait. (For more information on this disorder, choose "Antley-Bixler" as your search term in the Rare Disease Database.)

Standard Therapies

Goodman Syndrome can be detected at birth, based upon a clinical evaluation and characteristic physical findings. Treatment primarily consists of surgical correction of malformations. Early craniofacial surgery may be performed to correct the premature closure of the bones in the skull (craniosynostosis). Additional craniofacial surgery may be done later in life as well as surgery to correct deformities of the hands and feet.

Infants with Goodman Syndrome who have congenital heart defects may also be treated surgically. The surgical procedure performed will depend upon the severity and location of the anatomical abnormalities and their associated symptoms.

Other treatment is symptomatic and supportive. Genetic counseling will be of benefit for patients and their families.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Organizations related to Goodman Syndrome

References

TEXTBOOKS
Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc.; 1990:36-37.

JOURNAL ARTICLES:
Pham P, Smolka MB, Calabrese P, Landolph A, Zhang K, Zhou H, Goodman MF.
Impact of phosphorylation and phosphorylation-null mutants on the activity and deamination specificity of activation-induced cytidine deaminase. J Biol Chem. 2008 Apr 16;

Levinger I, Goodman C, Matthews V, Hare DL, Jerums G, Garnham A, Selig S.
BDNF, metabolic risk factors, and resistance training in middle-aged individuals.
Med Sci Sports Exerc. 2008 Mar; 40(3):535-41.

Jamil MN, et al. Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. Br J Neurosurg. 1992;6:243-47.

Gershoni-Baruch R. Carpenter syndrome: marked variability of expression to include the Summitt and Goodman syndromes. Am J Med Genet. 1990;35:236-40.

Hall JG, et al. Autosomal recessive acrocephalosyndactyly revisited [letter]. Am J Med Genet. 1980;5:423-24.

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Report last updated: 2008/03/31 00:00:00 GMT+0

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