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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.
A fontanelle is an anatomical feature of the infant human skull comprising soft membranous gaps (sutures) between the cranial bones that make up the calvaria of a fetus or an infant. Fontanelles allow for stretching and deformation of the neurocranium both during birth and later as the brain expands faster than the surrounding bone can grow. Premature complete ossification of the sutures is called craniosynostosis.
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.
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 lambdoid suture is a dense, fibrous connective tissue joint on the posterior aspect of the skull that connects the parietal bones with the occipital bone. It is continuous with the occipitomastoid suture.
The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull.
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.
Duane-radial ray syndrome, also known as Okihiro syndrome, is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands. This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.
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:
Acrocephalosyndactyly is a group of congenital conditions characterized by irregular features of the face and skull (craniosynostosis) and hands and feet (syndactyly). Craniosynostosis occurs when the cranial sutures, the fibrous tissue connecting the skull bones, fuse the cranial bones early in development. Cranial sutures allow the skull bones to continue growing until they fuse at age 24. Premature fusing of the cranial sutures can result in alterations to the skull shape and interfere with brain growth. Syndactyly occurs when digits of the hands or feet are fused together. When polydactyly is also present, the classification is acrocephalopolysyndactyly. Polydactyly occurs when the hands or feet possess additional digits. Acrocephalosyndactyly is usually diagnosed after birth, although prenatal diagnosis is sometimes possible if the genetic variation is present in family members, as the conditions are typically inherited in an autosomal dominant pattern Treatment often involves surgery in early childhood to correct for craniosynostosis and syndactyly.
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.
Baller–Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones. The symptoms of Baller–Gerold syndrome overlap with features of a few other genetics disorders: Rothmund–Thomson syndrome and RAPADILINO syndrome. The prevalence of BGS is unknown, as there have only been a few reported cases, but it is estimated to be less than 1 in a million. The name of the syndrome comes from the researchers Baller and Gerold who discovered the first three cases.
Kleeblattschaedel is a rare malformation of the head where there is a protrusion of the skull and broadening of the face. This condition is a severe type of craniosynostosis.
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.
References
- ↑ "Craniosynostosis with anomalies of the cranial base and digits". National Library of Medicine . Retrieved 2023-09-14.
- ↑ Woon, Kok-Chin; Kokich, Vincent G.; Clarren, Sterling K.; Cohen, M. Michael (August 1980). "Craniosynostosis with associated cranial base anomalies: A morphologic and histologic study of affected like-sexed twins". Teratology. 22 (1): 23–35. doi:10.1002/tera.1420220105. ISSN 0040-3709. PMID 7444800.
- ↑ "Craniosynostosis with anomalies of the cranial base and digits". Online Mendelian Inheritance in Man . Retrieved 2023-09-14.
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