Frank–Ter Haar syndrome (FTHS), also known as Ter Haar-syndrome, is a rare disease characterized by abnormalities that affect bone, heart, and eye development. Children born with the disease usually die very young.
Frank–Ter Haar syndrome
Autosomal recessive is the inheritance pattern of this condition
The primary characteristics of FTHS are brachycephaly (flat head), wide fontanelle (soft spot on a baby's head), prominent forehead, hypertelorism (abnormally wide distance between the eyes), prominent eyes, macrocornea (large corneas), optic disc edema, full cheeks, small chin, bowing of the long bones in the arms or legs, and finger deformities. Protruding, simple ears and a prominent coccyx (tailbone) are also regarded as important diagnostic signs of FTHS.[1]
Geneticedit
Genetic mapping in several families with FTHS linked the disease to an inherited mutation in the gene that codes for the protein Tks4.[2] Tks4 was already known for its role in the formation of cellular projections known as podosomes, which allow cells to migrate.[3] A mouse model that lacks the Tks4 gene shows all the symptoms of FTHS confirmed the hypothesis that Tks4 mutation is responsible for the disease.[2]
Diagnosisedit
This section is empty. You can help by adding to it. (July 2017)
Treatmentedit
There is no treatment for FTHS, though identification of TKS4 mutation as a causative factor may eventually provide new opportunities for neonatal screening in high-risk families.[citation needed]
Historyedit
In 1973, researchers led by Yitzchak Frank, most recently at Mount Sinai Hospital in New York, described an 18-month-old Bedouin girl, born to consanguineous parents, who presented with enlarged corneas, multiple bone abnormalities, and developmental delay.[4] In 1982, Dutch pediatrician Ben ter Haar reported on three similar patients thought to have Melnick–Needles syndrome.[5] Over the next twenty years, several more similar cases were identified and eventually attributed to a new disorder, now called Frank–Ter Haar syndrome. FTHS is distinguished from other similar conditions based on its pattern of inheritance and association with congenital glaucoma and congenital heart disease.[1]
Referencesedit
^ abMaas SM, Kayserili H, Lam J, Apak MY, Hennekam RC (December 2004). "Further delineation of Frank–Ter Haar syndrome". American Journal of Medical Genetics Part A. 131 (2): 127–33. doi:10.1002/ajmg.a.30244. PMID 15523657. S2CID 33406414.
^ abIqbal Z, Cejudo-Martin P, de Brouwer A, et al. (February 2010). "Disruption of the podosome adaptor protein Tks4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank–Ter Haar Syndrome". American Journal of Human Genetics. 86 (2): 254–61. doi:10.1016/j.ajhg.2010.01.009. PMC2820172. PMID 20137777.
^Buschman MD, Bromann PA, Cejudo-Martin P, Wen F, Pass I, Courtneidge SA (March 2009). "The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation". Molecular Biology of the Cell. 20 (5): 1302–11. doi:10.1091/mbc.E08-09-0949. PMC2649273. PMID 19144821.
^Frank Y, Ziprkowski M, Romano A, et al. (June 1973). "Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome?". Journal de génétique humaine. 21 (2): 67–72. PMID 4805907.
^Ter Haar B, Hamel B, Hendriks J, de Jager J (December 1982). "Melnick-Needles syndrome: indication for an autosomal recessive form". American Journal of Medical Genetics. 13 (4): 469–77. doi:10.1002/ajmg.1320130418. PMID 7158646.
External linksedit
January 01, 1970
frank, haar, syndrome, fths, also, known, haar, syndrome, rare, disease, characterized, abnormalities, that, affect, bone, heart, development, children, born, with, disease, usually, very, young, autosomal, recessive, inheritance, pattern, this, condition, con. Frank Ter Haar syndrome FTHS also known as Ter Haar syndrome is a rare disease characterized by abnormalities that affect bone heart and eye development Children born with the disease usually die very young Frank Ter Haar syndromeAutosomal recessive is the inheritance pattern of this condition Contents 1 Presentations 2 Genetic 3 Diagnosis 4 Treatment 5 History 6 References 7 External linksPresentations editThe primary characteristics of FTHS are brachycephaly flat head wide fontanelle soft spot on a baby s head prominent forehead hypertelorism abnormally wide distance between the eyes prominent eyes macrocornea large corneas optic disc edema full cheeks small chin bowing of the long bones in the arms or legs and finger deformities Protruding simple ears and a prominent coccyx tailbone are also regarded as important diagnostic signs of FTHS 1 Genetic editGenetic mapping in several families with FTHS linked the disease to an inherited mutation in the gene that codes for the protein Tks4 2 Tks4 was already known for its role in the formation of cellular projections known as podosomes which allow cells to migrate 3 A mouse model that lacks the Tks4 gene shows all the symptoms of FTHS confirmed the hypothesis that Tks4 mutation is responsible for the disease 2 Diagnosis editThis section is empty You can help by adding to it July 2017 Treatment editThere is no treatment for FTHS though identification of TKS4 mutation as a causative factor may eventually provide new opportunities for neonatal screening in high risk families citation needed History editIn 1973 researchers led by Yitzchak Frank most recently at Mount Sinai Hospital in New York described an 18 month old Bedouin girl born to consanguineous parents who presented with enlarged corneas multiple bone abnormalities and developmental delay 4 In 1982 Dutch pediatrician Ben ter Haar reported on three similar patients thought to have Melnick Needles syndrome 5 Over the next twenty years several more similar cases were identified and eventually attributed to a new disorder now called Frank Ter Haar syndrome FTHS is distinguished from other similar conditions based on its pattern of inheritance and association with congenital glaucoma and congenital heart disease 1 References edit a b Maas SM Kayserili H Lam J Apak MY Hennekam RC December 2004 Further delineation of Frank Ter Haar syndrome American Journal of Medical Genetics Part A 131 2 127 33 doi 10 1002 ajmg a 30244 PMID 15523657 S2CID 33406414 a b Iqbal Z Cejudo Martin P de Brouwer A et al February 2010 Disruption of the podosome adaptor protein Tks4 SH3PXD2B causes the skeletal dysplasia eye and cardiac abnormalities of Frank Ter Haar Syndrome American Journal of Human Genetics 86 2 254 61 doi 10 1016 j ajhg 2010 01 009 PMC 2820172 PMID 20137777 Buschman MD Bromann PA Cejudo Martin P Wen F Pass I Courtneidge SA March 2009 The novel adaptor protein Tks4 SH3PXD2B is required for functional podosome formation Molecular Biology of the Cell 20 5 1302 11 doi 10 1091 mbc E08 09 0949 PMC 2649273 PMID 19144821 Frank Y Ziprkowski M Romano A et al June 1973 Megalocornea associated with multiple skeletal anomalies a new genetic syndrome Journal de genetique humaine 21 2 67 72 PMID 4805907 Ter Haar B Hamel B Hendriks J de Jager J December 1982 Melnick Needles syndrome indication for an autosomal recessive form American Journal of Medical Genetics 13 4 469 77 doi 10 1002 ajmg 1320130418 PMID 7158646 External links edit Retrieved from https en wikipedia org w index php title Frank Ter Haar syndrome amp oldid 1088091310, wikipedia, wiki, book, books, library,
