Goodman Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Goodman Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Acrocephalopolysyndactyly Type IV

Disorder Subdivisions

  • None

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).


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.


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.

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 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


For information about clinical trials sponsored by private sources, contact:



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


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.


Children's Craniofacial Association

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FACES: The National Craniofacial Association

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Let's Face It

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American Heart Association

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Cleft Lip and Palate Foundation of Smiles

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