Floating harbor syndrome is an autosomal dominant condition. Floatingharbor syndrome is a rare genetic disorder characterized by proportionate short stature, delayed bone age, delayed speech development, and typical. A further report of a similar case was published in 1974 by leisti et al. Floatingharbor syndrome fhs is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The syndrome is characterized by a triad of short stature with significantly delayed bone age. Typical facial features in people with floating harbor syndrome include a triangular face. We report the first case of a patient diagnosed with floatingharbor syndrome fhs and chiari i malformation. The 3yearold girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. The gene for floatingharbor syndrome was only identified in 2012. Boston floating hospital and harbor general hospital in california. Small triangular face, deepset eyes, long eyelash es, lowset and posteriorly rotated ears and short neck, broad at the initial presentation at 5412 years. Floating harbor syndrome is a rare genetic disorder that was named for the first two identified patients who were seen at boston floating hospital and harbor general hospital in california.
Enable javascript to view the expandcollapse boxes. Pdf the phenotype of floatingharbor syndrome in 10. Floatingharbor syndrome is a genetic condition that causes short stature, speech. Nowaczyk,7 judith allanson,3 chong ae kim,8 dagmar wieczorek,9 jukka s.
Until this time, a diagnosis of floatingharbor syndrome. The phenotype of floatingharbor syndrome in 10 patients. M a patton, j hurst, d donnai, c m mckeown, t cole, and j goodship sw thames regional genetic service, st georges hospital medical school, london, sw17 0re. Srcap is one of several proteins that help activate a gene called crebbp. Floatingharbor syndrome genetics home reference nih. A multiple congenital anomaliesdysmorphic syndromeintellectual disability that is characterized by facial dysmorphism, short stature with. The face is triangular with deepset eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips. Floatingharborsyndromet kannetecknas av sen skelettmognad, kortvaxthet. Floatingharbor syndrome fhs is an extremely rare genetic disorder characterized by a distinctive facial. This unusually termed disorder is named after two hospitals where it was first identified and described the boston floating hospital, massachusetts and harbor general hospital, california both located in the us. Floating harbor syndrome fhs is a rare genetic disorder characterized by the presence of several physical and mental abnormalities. Genes provide instructions for creating proteins that play a critical role in many functions of the body.
Floating harbor syndrome support group nord national. Floatingharbor syndrome fhs is a rare autosomal dominant syndrome characterized by short stature with delayed bone age, retarded. Moilanen,10 didier lacombe,11 gabriele gillessenkaesbach,12. Although its cause is unknown, it is thought to result from genetic mutation, and diagnosis is established by the presence of a heterozygous srcap mutation. The specific symptoms and severity of floatingharbor syndrome fhs can. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. Clinical description facial features include a triangularshaped face, a prominent bulbous nose with a broad nasal bridge, a wide columella, deepset eyes with long eyelashes, a wide mouth with a thin upper lip, lowset. Research open access novel genotypes and phenotypes among chinese patients with floatingharbor syndrome shujie zhang1,2, shaoke chen2, haisong qin2, haiming yuan4, yalei pi5, yu yang6, hui huang6, guimei li7, yan sun7, zhihua wang8, huamei ma9, xiaoling fu10, ting zhou11, jian wang1, huifeng zhang5 and yiping shen1,2,3 abstract background.
Floatingharbor syndrome is a growth retardation syndrome with delayed bone age, typical facial features, and retarded speech development of unknown etiology. The increased availability of genetic testing for floatingharbor syndrome means that it is likely that more children and adults will be diagnosed with floatingharbor syndrome in the future. Floatingharbor syndrome fhs, mim 6140 is a rare genetic condition characterized by proportionate short stature, delayed bone age. Diagnosis of chiari i malformation may be difficult in fhs patients who present with communication problems. We describe the seventh patient with the floatingharbor syndrome. Chiari i malformation as part of the floatingharbor syndrome.
Floating harbor syndrome definition of floating harbor. Floating harbor syndrome support group genetic and rare. A diagnosis of floatingharbor syndrome is based upon identification of characteristic symptoms, a detailed patient history, a thorough clinical evaluation and a variety of specialized tests. Floatingharbor syndrome prevalence and incidence are unknown. Floatingharbor syndrome fhs is characterized by typical craniofacial features. A rare idiopathic disorder characterised by short stature, delayed language skills, a triangular face, broad nose, deepset eyes, wide mouth and thin lips. Until this time, a diagnosis of floatingharbor syndrome was made based on clinical features of the condition alone.
Case report of floatingharbor syndrome with bilateral. Floatingharbor syndrome fhs is a rare condition characterized by. Floatingharbor syndrome, also known as pelletierleisti syndrome, is a rare disease with. Around 100 cases have been reported in the literature to date. Floatingharbor syndrome is caused by a mutation in the srcap gene. Help others answering the top 25 questions of floatingharbor syndrome. While a more extensive list can be found below, the main characteristics of this syndrome are. Fhs was first described at bostons floating hospital 42 years ago, but the causative gene, called srcap, was identified only recently. Recently, heterozygous truncating mutations in srcap were determined to be diseasecausing.
The floatingharbor syndrome is a growth retardation syndrome with delayed bone age, speech development, and typical facial features. The floating harbor syndrome support group is a voluntary organization that provides information and encouragement to parents of children affected by floating harbor syndrome. Floatingharbor syndrome genetic and rare diseases information. Pdf floatingharbor syndrome fhs is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial. Nikkel, 4 jeremy schwartzentruber,5 chandree beaulieu,6 ma1gorzata j. The syndrome is characterized by proportional short stature, delayed bone maturation, delayed speech development, and. Pdf floatingharbor syndrome fhs is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic. The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice.
Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for floatingharbor syndrome. Floatingharbor syndrome fhs is named after the two hospitals that reported the first cases in the 1970s. Novel genotypes and phenotypes among chinese patients. The protein produced from the crebbp gene plays a key role in regulating cell growth and division and is important for normal development. With the availability of a dna based confirmatory test, we set forth to define the clinical features of this syndrome.
Floating harbor syndrome nord national organization for rare. The defining dna methylation signature of floatingharbor. Floatingharbor syndrome is a rare condition with about 100 affected individuals reported in the medical literature. This syndrome is a rare genetic disorder that was named for the first two identified patients who were seen at boston floating hospital and harbor general hospital in. Longterm followup study for a patient with floatingharbor syndrome due to a hotspot srcap mutation. Floatingharbor syndrome is caused by mutations in the srcap gene. Floatingharbor syndrome fhs is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Clinical features of floating harbor syndrome in of her family history was unremarkable. This gene provides instructions for making a protein called snf2related crebbp activator protein, or srcap.
Floatingharbor syndrome fhs is a rare human disease characterised by delayed bone mineralisation and growth deficiency, often associated with mental retardation and skeletal and craniofacial abnormalities. Floatingharbor syndrome fhs is an autosomal dominant genetic condition characterized by short stature, delayed osseous maturation, expressive language impairment, and unique facial dysmorphology. Floatingharbor syndrome fhs is a rare genetic disorder caused by heterozygous mutations in the snf2related crebbp activator protein srcap gene. The gene for floating harbor syndrome was only identified in 2012. Now a genetic test is often offered to confirm the diagnosis. Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. Floating harbor syndrome, also known as pelletier leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. Floating harbor syndrome nord national organization for. The distinctive facial features that characterize fhs can be subtle and difficult to recognize during infancy. They suggested the term floatingharbor syndrome, whichfor its memorable. Floatingharbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. When a mutation of a gene occurs, the protein product may be faulty, inefficient, or absent. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development.
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