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Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome, also simply known as Hartsfield syndrome, is a rare genetic disorder characterized by the presence of variable holoprosencephaly, ectrodactyly, cleft lip and palate, alongside generalized ectodermal abnormalities.
However, when growth of the mandibular process is impeded, a lip pit occurs. Lip pits begin to develop on day 36. Cleft lip begins to develop on day 40, and cleft palate emerges on day 50 of development. [3] There are three types of lip pits, which are classified according to their location: midline upper, comissural, and lower lip.
[1] [2] Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam. [1] A cleft lip or palate can be successfully treated with surgery. [1] This is often done in the first few months of life for cleft lip and before eighteen months for cleft palate. [1] Speech therapy and dental care may also be needed. [1]
In some cases of autosomal dominant Opitz G/BBB syndrome, the disease is caused by a mutation in the SPECC1L gene (near the 22q11.2 gene), which helps make cytospin-A. Cytospin-A is a protein imperative to the formation of facial features and is often considered responsible for the cleft lip or palate that Opitz G/BBB syndrome patients will ...
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, [1] is a rare congenital syndrome.It is characterized by facial clefting (any type of cleft in the bones and tissues of the face, including a cleft lip and palate), a caudal appendage (a "human tail"), [2] [3] growth deficiency, intellectual and developmental disability, and abnormalities ...
Within craniofacial disorders and abnormalities, orofacial clefts, and specifically cleft lip (CL) and cleft palate (CP) are the most common in humans. [9] Occurrences of CL/P are most often (around seventy percent of cases) isolated and nonsyndromic, meaning they are not associated with a syndrome or inherited genetic conditions.
Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome [1] and split hand–split foot–ectodermal dysplasia–cleft syndrome [2]: 520 is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait.
Major symptoms of Hay–Wells syndrome include: sparse hair and eyelashes, missing teeth, cleft palate, cleft lip with fusing of the upper and lower eyelids, and deformed nails. [5] [22] Therefore, a diagnosis of Hay–Wells syndrome is largely based upon the physical clinical presentation of the patient. [22]