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Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands and feet, such as wide and deviated thumbs and big toes.
Other names. Cloverleaf skull, kleeblattschädel, isolated cloverleaf skull syndrome [1] 1-day-old female infant with kleeblattschaedel. Complications. Proptosis, recurrent corneal erosions, elbow ankylosis, hydrocephalus. Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face. [2]
Pfeiffer syndrome: abnormalities of the skull, hands, and feet; wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose. Saethre–Chotzen syndrome: short or broad head; the eyes may be spaced wide apart and have palpebral ptosis (droopy eyelids), and fingers maybe abnormally short and webbed.
Pfeiffer syndrome: Coronal Brachyturricephaly, cloverleaf skull Also classified as Acrocephalosyndactyly type V. Potocki-Shaffer syndrome: Brachycephaly, turricephaly Progeroid and marfanoid aspect-lipodystrophy syndrome: Scaphocephaly Macrocephaly Pseudo-Hurler polydystrophy
An unusual head shape called kleeblattschaedel ("cloverleaf skull") can be seen with type 2 thanatophoric dysplasia. Prognosis. The term thanatophoric is Greek for "death bearing". Children with this condition are usually stillborn or die shortly after birth from respiratory failure.
Holden is one of 1 in 100,000 children born with a genetic disorder called Pfeiffer syndrome. It is associated with more than 25 mutations on one of two fibroblast growth factor receptor genes.
Beare–Stevenson cutis gyrata syndrome is a rare genetic disorder characterized by craniosynostosis (premature fusion of certain bones of the skull, sometimes resulting in a characteristic 'cloverleaf skull'; further growth of the skull is prevented, and therefore the shape of the head and face is abnormal) and a specific skin abnormality ...
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Exophthalmos in cloverleaf skull. Cloverleaf skull syndrome; COG1 congenital disorder of glycosylation; Cole-Carpenter syndrome 1, 2; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal; Cornelia de Lange syndrome 1; Craniosynostosis 4; Craniosynostosis and dental anomalies; Exophthalmos in Crouzon syndrome. Crouzon syndrome
ACS. Syndactyly in acrocephalosyndactyly (Apert) Specialty. Medical genetics. Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull ( craniosynostosis) and hands and feet ( syndactyly ). [1] Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull ...