Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly. People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state.
Brachycephaly is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species.
Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods.
Scaphocephaly, or sagittal craniosynostosis, is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull resulting in a characteristic long, narrow head. The skull base is typically spared.
Trigonocephaly is a congenital condition due to premature fusion of the metopic suture, leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is from the Greek trigonon, "triangle", and kephale, "head".
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects.
Apert syndrome is a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet. It is classified as a branchial arch syndrome, affecting the first branchial arch, the precursor of the maxilla and mandible. Disturbances in the development of the branchial arches in fetal development create lasting and widespread effects.
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the growing brain, craniosynostosis results in increased intracranial pressure leading possibly to visual impairment, sleeping impairment, eating difficulties, or an impairment of mental development combined with a significant reduction in IQ.
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis. This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face. Individuals with SCS also have droopy eyelids (ptosis), widely spaced eyes (hypertelorism), and minor abnormalities of the hands and feet (syndactyly). Individuals with more severe cases of SCS may have mild to moderate intellectual or learning disabilities. Depending on the level of severity, some individuals with SCS may require some form of medical or surgical intervention. Most individuals with SCS live fairly normal lives, regardless of whether medical treatment is needed or not.
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly that presents with polydactyly.
The frontal suture is a fibrous joint that divides the two halves of the frontal bone of the skull in infants and children. Typically, it completely fuses between three and nine months of age, with the two halves of the frontal bone being fused together. It is also called the metopic suture, although this term may also refer specifically to a persistent frontal suture.
The sagittal suture, also known as the interparietal suture and the sutura interparietalis, is a dense, fibrous connective tissue joint between the two parietal bones of the skull. The term is derived from the Latin word sagitta, meaning arrow.
The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull.
Synostosis is fusion of two or more bones. It can be normal in puberty, fusion of the epiphyseal plate to become the epiphyseal line, or abnormal. When synostosis is abnormal it is a type of dysostosis. Examples of synostoses include:
Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. First described by Maximilian Muenke, the syndrome occurs in about 1 in 30,000 newborns. This condition accounts for an estimated 8 percent of all cases of craniosynostosis.
Pediatric plastic surgery is plastic surgery performed on children. Its procedures are most often conducted for reconstructive or cosmetic purposes. In children, this line is often blurred, as many congenital deformities impair physical function as well as aesthetics.
McGillivray syndrome is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape.
Metopism is the condition of having a persistent metopic suture, or persistence of the frontal metopic suture in the adult human skull. Metopism is the opposite of craniosynostosis. The main factor of the metopic suture is to increase the volume of the anterior cranial fossa. The frontal bone includes the forehead, and the roofs of the orbits of the eyes. The frontal bone has vertical portion (squama) and horizontal portion. Some adults have a metopic or frontal suture in the vertical portion. In uterine period in right and left half of frontal region of the fetus there is a membrane tissue. On each half a primary ossification center appears about the end of the second month of the fetus. Primary ossification center extends to form the corresponding half of the vertical part (squama) and horizontal part of the frontal bone.
Craniosynostosis and dental anomalies is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition include malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Syndactyly, clinodactyly, and other digit anomalies may also be present.
Leptocephaly is a rare form of complex craniosynostosis in which the sagittal and metopic suture simultaneously close. Leptocephaly is characterized by equal narrowing of the head and a tall and narrow head shape. Leptocephaly is usually nonsyndromic, but has been seen in individual cases such as Neu-Laxova syndrome.
