| 词条 | Frank–ter Haar syndrome |
| 释义 |
| name = {{PAGENAME}} | synonyms = | image = Autosomal recessive - en.svg | alt = | caption = Autosomal recessive is the inheritance pattern of this condition | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} 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. Clinical presentationsThe 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 basisGenetic mapping in several families with FTHS linked the disease to an inherited mutation in the gene that codes for the protein Tks4.[1] Tks4 was already known for its role in the formation of cellular projections known as podosomes, which allow cells to migrate.[2] 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.[1] Diagnosis{{Empty section|date=July 2017}}TreatmentThere 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. HistoryIn 1973, researchers led by Dr. 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.[3] In 1982, Dutch pediatrician Dr. Ben ter Haar reported on three similar patients thought to have Melnick–Needles syndrome.[4] 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.[5] References1. ^1 {{cite journal |vauthors=Iqbal Z, Cejudo-Martin P, de Brouwer A |title=Disruption of the podosome adaptor protein Tks4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome |journal=American Journal of Human Genetics |volume=86 |issue=2 |pages=254–61 |date=February 2010 |pmid=20137777 |doi=10.1016/j.ajhg.2010.01.009 |pmc=2820172|display-authors=etal}} 2. ^{{cite journal |vauthors=Buschman MD, Bromann PA, Cejudo-Martin P, Wen F, Pass I, Courtneidge SA |title=The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation |journal=Molecular Biology of the Cell |volume=20 |issue=5 |pages=1302–11 |date=March 2009 |pmid=19144821 |pmc=2649273 |doi=10.1091/mbc.E08-09-0949}} 3. ^{{cite journal |vauthors=Frank Y, Ziprkowski M, Romano A |title=Megalocornea associated with multiple skeletal anomalies: a new genetic syndrome? |journal=Journal de génétique humaine |volume=21 |issue=2 |pages=67–72 |date=June 1973 |pmid=4805907|display-authors=etal}} 4. ^{{cite journal |vauthors=ter Haar B, Hamel B, Hendriks J, de Jager J |title=Melnick-Needles syndrome: indication for an autosomal recessive form |journal=American Journal of Medical Genetics |volume=13 |issue=4 |pages=469–77 |date=December 1982 |pmid=7158646 |doi=10.1002/ajmg.1320130418}} 5. ^1 {{cite journal |vauthors=Maas SM, Kayserili H, Lam J, Apak MY, Hennekam RC |title=Further delineation of Frank-ter Haar syndrome |journal=American Journal of Medical Genetics Part A |volume=131 |issue=2 |pages=127–33 |date=December 2004 |pmid=15523657 |doi=10.1002/ajmg.a.30244}} External links{{Medical resources| ICD10 = Q87.8 | ICD9 = | ICDO = | OMIM = 249420 | DiseasesDB = | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeSH = | GeneReviewsNBK = | GeneReviewsName = | Orphanet = 137834 }}{{DEFAULTSORT:Frank ter Haar-syndrome}} 3 : Syndromes affecting the eyes|Rare syndromes|Syndromes with craniofacial abnormalities |
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