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...here infants are born with a [[cleft palate]], [[micrognathia]], [[Wormian bones]], [[congenital heart disease]], dislocated [[Hip (anatomy)|hips]], bowed [ [[Category:Syndromes]] ...

...per arm bones are wider than usual resulting in a dumbbell-shape while the bones of the vertebrae may be abnormal.<ref name="auto2"/> Typical abnormal facia [[Category:Rare syndromes]] ...

...letal abnormalities including bony growths projecting from the surfaces of bones.<ref>{{cite journal | last=Devidayal |author2=Marwaha RK | title=Langer–Gi ...h fingers are sometimes [[clinodactyly|bent]]. Skeletal abnormalities not affecting the hands and feet may also occur. These include [[winged scapula]], thin r ...

...]] characterized by foot abnormalities and the premature fusion of certain bones of the skull ([[craniosynostosis]]), which prevents further growth of the s ...r) of Jackson–Weiss syndrome result from the premature fusion of the skull bones. The following are some of the more common, such as:<ref name=nih/><ref nam ...

...middle ear holds the [[tympanic membrane]], or ear drum and several little bones that are moved by the sound waves that have entered the ear via the canal. Defects affecting the external ear such as the [[Pinna (anatomy)|auricle]] results from malfo ...

...ormation of the [[wrist bone]]s (fusion of the [[hamate]] and [[capitate]] bones). ...hesis for the often [[pleiotropic|multi-symptom]] nature of a large set of syndromes and diseases. Known ciliopathies include [[primary ciliary dyskinesia]], [ ...

...cription|Genetic disorder causing malformation of the heart and upper limb bones}} ...ones]] of unequal length or underdeveloped, partial or complete absence of bones in the forearm, and abnormalities in the [[clavicle|collar bone]] or [[sca ...

Symptoms of isolated brachydactyly include shorter bones in the hands and feet. This could include, phalanges, metacarpals, metatars ...s not impact life expectancy. Prognosis may differ with different types or syndromes. ie. [[brachydactyly-mesomelia-intellectual disability-heart defects syndro ...

...ortening of long bones, particularly those of the upper arms and the thigh bones, short stature, and/or curvature of the spine. In rare cases, [[intellectua Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated ...

...d with [[trigonocephaly]] (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficit ...toms. The head and neck symptoms come in the form of [[craniosynostosis]] affecting the metopic suture (the dense connective tissue structure that divides the ...

.... Actually, it is the repositioning of bone from calvaria to the maxillary bones, and placement of dental implants in a completely edentulous maxilla when t ...can be kept longer in the mouth, helping the development of the maxillary bones.{{citation needed|date=October 2021}} ...

Bones and joints{{citation needed|date=September 2021}} * Exostoses arising from the posterior aspect of the iliac bones ("iliac horns") are present in as many as 80% of patients; this finding is ...

...essive arthro-ophthalmodystrophy) is a group of rare [[genetic disorder]]s affecting [[connective tissue]], specifically [[collagen]].<ref name=Stickler>{{cite ...s a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the n ...

...rst1=Alexandra F. | last2=Holland | first2=Steven M. | title=The Hyper-IgE Syndromes | journal=Immunology and Allergy Clinics of North America | publisher=Elsev ...tle = Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes | journal = Pediatric Research | volume = 65 | issue = 5 Pt 2 | pages = 32R ...

...kull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first [[Pharyngeal arch|branchial (or pharyngeal) arch]], the precursor ...er syndrome]]. [[Craniosynostosis]] occurs when the fetal skull and facial bones fuse too soon ''[[Uterus|in utero]]'', disrupting normal bone growth. Fusio ...

...gement of disorders of which the common feature is [[inflammation]] in the bones, muscles, joints, and internal organs.<ref name=":0">{{Cite web |title=Expl ...and treatment of arthritis and other diseases of the joints, muscles, and bones. Many rheumatologists also conduct research to determine the cause and bett ...

...last=Allanson, Judith |first=Cassidy, Suzanne |title=Management of Genetic Syndromes |publisher=John Wiley & Sons, Inc. |year=2010 |isbn=9780470191415 |location * Flat, asymmetric head and face<ref name="Management of Genetic Syndromes" /> ...

[[Category:Syndromes with macrocephaly]] [[Category:Syndromes with tumors]] ...

...nner walls. This can lead to rupture or blockage of the arteries. Weakened bones ([[osteoporosis]]) may result in fractures.<ref name="Menkes Disease">{{Cit ...K, Meagher CK, Petris MJ |date=November 2002 |title=A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper sup ...

...[macrocephaly|head can be large]] with [[frontal bossing|prominent frontal bones]]. The skull can be [[scaphocephaly|elongated]]. The nose can have a flatte ...and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK | journal = Orphanet Journal of Rare Diseases | volume = 3 | page ...