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Hanhart Syndrome

Synonyms of Hanhart Syndrome

  • aglossia-adactylia
  • hypoglossia-hypodactylia syndrome
  • peromelia with micrognathia

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Hanhart syndrome is a rare birth defect in which the most obvious signs are a short, incompletely developed tongue (hypoglossia); absent or partially missing fingers and/or toes (hypodactylia); malformed arms and/or legs (peromelia); and an extremely small jaw (micrognathia). A more complete list of other signs frequently encountered may be found below. The severity of these physical abnormalities varies greatly from case to case. Children with this disorder often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood.

Symptoms

The following symptoms are very frequently seen in Hanhart syndrome:

microstomia (small mouth)
absent foot
micrognathia/retrognathia (small jaw, and deeply receding jaw)
partial absence of mandible
high vaulted/narrow palate
terminal hypoplasia of fingers (Incomplete or missing fingers)
terminal hypoplasia of toes (Incomplete or missing toes)
oligodactyly/adactyly (missing fingers)
upper limb-transverse elements missing
thin, hypoplastic hyperconvex fingernails

In children with Hanhart syndrome, fingers and/or toes may be partially missing or completely absent (ectrodactylia). In addition, lower (distal) portions of the arms and/or legs may be malformed, partially missing, and/or completely absent (amelia). In an affected individual, any limb malformations present tend to vary in severity from limb to limb (asymmetric).

In infants with Hanhart syndrome, loss of some motor function (paralysis) in the facial area may be present at birth (congenital) due to impairment of 1 or more of the 12 nerve pairs that arise from the brain (cranial nerve palsy). In many cases, congenital nerve palsy of the 6th (abducens) and/or 7th (facialis) cranial nerves is present. In rarer cases, the 3rd (oculomotorius), 5th (trigeminus), 9th (glossopharyngeus), and/or 12th (hypoglossus) cranial nerves are affected. The presence of some of these nerve palsies can worsen any feeding problems that occur because of tongue, mouth, and/or jaw abnormalities.

In some cases, additional abnormalities may occur in association with Hanhart syndrome. In some affected individuals, the spleen and the gonads (i.e., testes in males, ovaries in females) may have fused together during fetal development (splenogonadal fusion). This may be manifested in males as a testicular mass or as a testis that has failed to descend into the scrotum (cryptorchidism). Some individuals may have vertical skin folds that cover the eyes' inner corners (epicanthus); a malformation of the foot (clubfoot or talipes); an absent kidney (unilateral renal agenesis); a cyst in the brain (porencephalic cyst); and/or an absent or abnormally located anus (imperforate anus). Obstruction of the central portion of the small intestine (jejunal atresia) may occur due to twisting of the small intestine. Mental retardation may also be present in some individuals with Hanhart syndrome. (For more information on these conditions, choose "jejunal atresia" and "imperforate anus" as your search terms in the Rare Disease Database.)

Causes

The exact cause of Hanhart syndrome is not known. Cases tend to occur randomly, with no apparent cause (sporadic). Some researchers believe that the disorder, which has been reported in the children of blood relatives (consanguinity) in a number of cases, may be inherited as an autosomal recessive genetic trait.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Recessive genetic disorders occur when an individual inherits the same abnormal 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 for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Some clinicians theorize that the defect in development responsible for Hanhart syndrome may occur when there is an interruption of the necessary blood supply to the parts of the embryo that eventually develop into the arms, legs, hands, and feet (the limb buds); the tongue; the mouth and jaw area (Meckel's cartilage); and, possibly in some cases, parts of the brain. It is projected that a clot has formed within a blood vessel (thrombus) or has traveled through the blood stream and become lodged in a vessel (embolus) is responsible for the interruption of blood flow. Such a clot may result from exposure of the embryo to certain drugs taken during pregnancy that decrease blood flow (hypoperfusion) through particular organs. Or a clot could result from the death of another embryo in the uterus that was originally formed from the same fertilized egg (discordant monozygotic twins).

Affected Populations

Hanhart Syndrome is a very rare developmental disorder that affects males and females in equal numbers. Fewer than 1 in 20,000 children are affected with this disorder.

Related Disorders

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

Oromandibular-Limb Hypogenesis Syndrome is the name sometimes used in the medical literature to describe a group of rare disorders that are all characterized by underdevelopment (hypogenesis) of the mouth and jaw (oromandibular) areas, the limb buds, and possibly other areas in the developing embryo. This "community" of disorders includes Hanhart Syndrome, Ankyloglossum Superior Syndrome, Charlie M Syndrome, and Moebius Syndrome. Some researchers believe that these are overlapping disorders or disease variants representing a spectrum of malformations caused by environmental or other factors.

Ankyloglossum Superior Syndrome is a rare developmental disorder in which part of the tongue is joined to the roof of the mouth (palate), causing restricted movement of the tongue and difficulty with speech. The disorder is also characterized by malformations of the arms, legs, hands, and/or feet. Although the exact cause of Ankyloglossum Superior Syndrome is not known, it is believed that genetic and/or environmental factors may play a role.

Charlie M Syndrome is a rare birth defect characterized by distinctive facial abnormalities in association with malformations of the arms, legs, hands, and/or feet. Facial abnormalities may include eyes that are set widely apart (ocular hypertelorism), a broad nose and small mouth, incomplete closure of the roof of the mouth (cleft palate), an abnormally small jaw (micrognathia), and dental abnormalities, including front teeth (incisors) that are absent (hypodontia) or appear to be cone-shaped (conical). Affected individuals may also have a short, incompletely developed tongue (hypoglossia), a vertical groove in the front of the tongue (cleft tongue), and/or some degree of facial nerve paralysis (cranial nerve palsy). Lower (distal) portions of the arms, legs, hands, and/or feet may be malformed, partially missing, and/or absent. In some cases, individuals with Charlie M Syndrome may also exhibit the main characteristics of Poland Syndrome. (For information on Poland Syndrome, see the end of this section.) The exact cause of Charlie M Syndrome is not known. Some researchers believe that the syndrome may be inherited as an x-linked genetic trait or may be caused by the interaction of several genes (polygenic inheritance).

Moebius Syndrome is a rare developmental disorder characterized by facial paralysis at birth (congenital), due to impairment of the 6th (abducens) and/or 7th (facialis) cranial nerves. Moebius Syndrome is identifiable at birth by a masklike expression that is most apparent during crying or laughing. The mouth and eyes may remain open during sleep due to facial nerve and/or muscle abnormalities. Feeding may be difficult during infancy, and speech problems may occur later in development. Other features associated with Moebius Syndrome may include a short, incompletely developed tongue (hypoglossia), fingers and/or toes that are webbed (syndactyly) and/or abnormally short (brachydactyly), a malformed foot (clubfoot or talipes), and/or mild stiffness of both lower legs (spastic diplegia). Mental retardation occurs in some cases. It is believed that Moebius Syndrome may have a number of different causes. (For more information on this disorder, choose "Moebius" as your search term in the Rare Disease Database.)

Poland Syndrome is a rare developmental disorder in which one or more chest muscles on one side of the body are partially or completely absent. The cartilage, ribs, breast, and/or nipple on the same side are also underdeveloped or completely absent. The hand, arm, forearm, and wrist on the same side of the body are also underdeveloped. Some of the bones in the fingers (phalanges) are short or absent, and the fingers are abnormally short and webbed (symbrachydactyly). The exact cause of Poland Syndrome is not known. Although cases appear to occur randomly without apparent cause (sporadic), some researchers believe that the disorder may be inherited. (For more information on this disorder, choose "Poland" as your search term in the Rare Disease Database.)

In Poland-Moebius Syndrome, the developmental abnormalities associated with Poland Syndrome occur in conjunction with facial paralysis due to impairment of the 6th and/or 7th cranial nerves, as occurs in Moebius Syndrome. The exact cause of Poland-Moebius Syndrome is not known.

Phocomelia Syndrome is a birth defect primarily characterized by deficient limb development. In most cases, parts of the hands and arms may be malformed or missing; malformations of portions of the legs may also be present in some cases. The hands and/or feet may be attached close to the body, or the limbs may be abnormally small. Other physical abnormalities may include a swelling or mass of blood vessels (hemangioma) on the face; abnormalities of the eyes, ears, and/or nose; testes that have failed to descend (cryptorchidism); and/or malformations of several internal organs. In some cases, mental retardation may also be present. Phocomelia Syndrome may occur randomly for no apparent reason (sporadic), may be inherited as an autosomal recessive genetic trait, or may be caused by the ingestion of certain drugs during early pregnancy, such as the tranquilizer Thalidomide or the acne drug Accutane. (For more information on this disorder, choose "Phocomelia" as your search term in the Rare Disease Database.)

Standard Therapies

Hanhart syndrome may be identified before birth (prenatally) by ultrasonography, a test that creates an image of the fetus by measuring the reflection of sound waves. In most cases, Hanhart syndrome is detected in the neonate (newborn), based upon a thorough clinical evaluation and characteristic physical findings.

The treatment of Hanhart syndrome requires the coordinated efforts of a team of specialists. Pediatricians, plastic and orthopedic surgeons, dental specialists, speech pathologists, physical therapists, and others must systematically and comprehensively plan the child's treatment.

In infants with Hanhart syndrome, any feeding difficulties resulting from tongue, mouth, and/or jaw malformations and cranial nerve palsies must be addressed immediately to ensure proper nutrition and growth. Abnormalities of the tongue, mouth, and jaw area may be treated through surgical correction, the use of artificial devices (prostheses), and/or physical therapy.

Children with Hanhart syndrome may have difficulties with speech, depending on the severity of any tongue, mouth, and/or jaw malformations and the progress of any treatment to correct these physical abnormalities. Treatment for such impairment consists of specialized speech therapy.

Depending on the severity of any limb abnormalities, children with Hanhart syndrome may have difficulty performing skills that require coordination of motion (motor skills), such as walking, writing, etc. Treatment may consist of surgery; the use of artificial replacements for parts of the arms, legs, hands, and/or feet that may be missing (limb prostheses); and/or physical therapy to help individuals enhance their motor skills.

Genetic counseling will be of benefit for patients and their families. Individuals with Hanhart syndrome may also benefit from special social support, special education, and vocational and occupational services. Other treatment is symptomatic and supportive, based upon the specifics of the affected individual's case.

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 Hanhart Syndrome

References

TEXTBOOKS
Jones KL. Ed. Smith's Recognizable Patterns of Human Malformation. 5th ed. W. B. Saunders Co., Philadelphia, PA; 1997:646, 647-8.

Buyce ML. Editor-in-Chief. Birth Defects Encyclopedia. Blackwell Scientific Publications. Center for Birth Defects Information Services, Inc., Dover, MA; 1990: 309-10, 542-43, 920-21, 1394- 95.

Gorlin RJ, Cohen MMJr, Levin LS. Eds. Syndromes of the Head and Neck. 3rd ed. Oxford University Press, London, UK; 1990:666-68.

JOURNAL ARTICLES
Thorp MA, de Waal PJ, Prescott CA. Extreme microglossia. Int J Otorhinolaryngol. 2003;67:473-77.

Yasuda Y, Kitai N, Fujii Y, et al. Report of a patient with hypoglossia-hypodactylia syndrome and a review of the literature. Cleft Palate Craniofac J. 2003;40:196-202.

Camera G, Ferrari G, Rossello MI et al. 'Angel-shaped phalanx' in a boy with oromandibular-limb hypogenesis. Am J Med Genet. 2003;119A:87-88.

Amor DJ, Craig JE. Situs inversus totalis and congenital hypoglossia. Clin Dysmorphol. 2001;10:47-50.

Robertson SP, Bankier A. Oromandibular-limb hypogenesis complex (Hanhart syndrome): a severe adult phenotype. Am J Med Genet. 1999;83:427-29.

Grippaudo FR, Kennedy DC. Oromandibular-limb hypogenesis syndromes: a case of aglossia with an intraoral band. Br J Plast Surg. 1998:51:480-83.

Mishima K, Sugahara T, Mori Y, et al. Case report: hypoglossia-hypodactylia syndrome. J Craniomaxillofac Surg. 1996;24:36-39.

Johnson GF, Robinow M. Aglossia-adactylia. Radiology. 1978;128:127-32.

Robinow M, Marsh JL, Edgerton MT, et al. Discordance in monozygotic twins for aglossia-adactylia, and possible clues to the pathogenesis of the syndrome. Birth Defects Orig Artic Ser. 1978;14:223-30.

FROM THE INTERNET
McKusick VA, Ed. Online Mendelian Inheritance in Man (OMIM). The Johns Hopkins University. Entry Number; 102300: Last Edit Date; 5/15/2003.

Robert-Gnansi E. Aglossia adactylia. Orphanet. February 2002. 2pp.
www.orpha.net/consor/cgi-bin/Pages/Service/Maladie/Service_Pat_Data.php?Asb=Pat&PatId
www.orpha.net/consor/cgi-bin/Pages/Service/Signe/Service_PatSgn_Data.php?PatId=1304&P

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Report last updated: 2008/02/25 00:00:00 GMT+0

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