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Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
A unibrow is a single eyebrow created when the two eyebrows meet in the middle above the bridge of the nose. The hair above the bridge of the nose is of the same color and thickness as the eyebrows, such that they converge to form one uninterrupted line of hair.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.
Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the interphalangeal joints of the hands and feet, intellectual disability in approximately 90% of affected children, and peculiar facies. Other common abnormalities include short head, small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine growth retardation, juvenile arthritis and short stature. Further abnormalities of the skin, genitals, teeth, and skeleton may occur.
Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, intellectual disability, and postnatal growth retardation.
Fryns-Aftimos syndrome is a rare chromosomal condition and is associated with pachygyria, severe mental retardation, epilepsy and characteristic facial features. This syndrome is a malformation syndrome, characterized by numerous facial dysmorphias not limited to hypertelorism, iris or retinal coloboma, cleft lip, and congenital heart defects. This syndrome has been seen in 30 unrelated people. Characterized by a de novo mutation located on chromosome 7p22, there is typically no family history prior to onset. The severity of the disorder can be determined by the size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming a diagnosis of Fryns-Aftimos syndrome typically consists of serial single-gene testing or multigene panel of genes of interest or exome sequencing.
Microcephaly albinism digital anomalies syndrome is a very rare congenital genetic disease. The syndrome includes microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers, and agenesia of the distal end of the right big toe.
Filippi syndrome, also known as Syndactyly Type I with Microcephaly and Mental Retardation, is a very rare autosomal recessive genetic disease. Only a very limited number of cases have been reported to date. Filippi Syndrome is associated with diverse symptoms of varying severity across affected individuals, for example malformation of digits, craniofacial abnormalities, intellectual disability, and growth retardation. The diagnosis of Filippi Syndrome can be done through clinical observation, radiography, and genetic testing. Filippi Syndrome cannot be cured directly as of 2022, hence the main focus of treatments is on tackling the symptoms observed on affected individuals. It was first reported in 1985.
Microcephaly deafness syndrome is an extremely rare genetic disorder which consists of microcephaly, congenital hearing loss, mild intellectual disability, speech delay, low height, and facial dysmorphisms. Only 2 cases of this disorder have been recorded in medical literature; a mother and her son. The researchers who discovered this disorder later suggested that this disorder was inherited in an autosomal dominant manner, although the genetic cause of it has never been found. The disease is estimated to affect less than 1 out of a million people worldwide.
MacDermot–Winter syndrome is a very rare fatal genetic disorder which is characterized by pre-natal developmental delay, cranio-facial dysmorphisms, genitalia hypoplasia and congenital-onset seizures. Its prevalence is less than 1 in a million live births.
Cleft palate short stature vertebral anomalies, also known as Mathieu-De Broca-Bony syndrome, is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate, facial dysmorphisms, short stature and neck, vertebral abnormalities and intellectual disabilities. It is thought to be inherited in an autosomal dominant fashion.
Gustavson syndrome, also known as Severe X-linked intellectual disability, Gustavson type, is a rare genetic disorder characterized by severe intellectual disabilities, microcephaly, developmental delay, optic atrophy-induced severe vision impairment/loss, severe hearing loss, spasticity, epilepsy, hypomobility of major joints, facial dysmorphisms, and premature death. Some other frequent symptoms include severe postnatal growth retardation, infantile apnea, brain atrophy, dilation of the fourth cerebral ventricle, recurrent upper respiratory tract infections, and a small fontanelle. This disorder was first discovered in 1993, by Gustavson et al., when they described 7 male children from a 2-generation family, these children had the symptoms mentioned above, and they came to the conclusion that this case was part of a novel X-linked recessive syndrome. No new cases have been reported since then (1993).
Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature.
Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by blepharophimosis, ptosis, and intellectual disabilities. These disorders usually follow either autosomal recessive, autosomal dominant, x-linked recessive, or mitochondrial inheritance patterns.
McDonough syndrome, also known as Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect is a very rare multi-systemic genetic disorder which is characterized by facial dysmorphisms, psychomotor delays, intellectual disabilities, and congenital heart defects. Additional findings include either pectus excavatum or pectus carinatum, kyphoscoliosis, diastasis recti and cryptorchidism.
Mandibulofacial dysostosis with microcephaly syndrome, also known as growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome, mandibulofacial dysostosis, guion-almeida type, or simply as MFDM syndrome is a rare genetic disorder which is characterized by developmental delays, intellectual disabilities, and craniofacial dysmorphisms.
Hall-Riggs syndrome is a rare genetic disorder that causes neurological issues and birth defects. People with Hall-Riggs syndrome usually have skeletal dysplasia, facial deformities, and intellectual disabilities. Only 8 cases from 2 families worldwide have been described in medical literature. It is an autosomal recessive genetic disorder, meaning both parents must carry the gene in order for their offspring to be affected.
Severe intellectual disability-progressive spastic diplegia syndrome is a rare novel genetic disorder characterized by severe intellectual disabilities, ataxia, craniofacial dysmorphisms, and muscle spasticity. It is a type of autosomal dominant syndromic intellectual disability.
X-linked complicated corpus callosum dysgenesis is a genetic disorder characterized by dysplasia, hypoplasia or agenesis of the corpus callosum alongside variable intellectual disability and spastic paraplegia. Only 13 cases have been described in medical literature. Transmission is X-linked recessive. It is the mildest subtype of L1 syndrome.
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome is a rare autosomal dominant genetic disorder characterized by cardiofaciodigital anomalies occurring alongside Pierre Robin sequence. Additional features include abnormal sense of smell, camptodactyly, recurrent joint dislocations, and short stature. Around 6 to 12 cases have been described in medical literature.
References
- 1 2 "Orphanet: Aortic arch anomaly peculiar facies intellectual disability syndrome". www.orpha.net. Retrieved 2022-07-16.
- ↑ "Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome (Concept Id: C1862682) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-21.
- ↑ "Aortic arch anomaly - peculiar facies - intellectual disability - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-21.
- ↑ Strong, W. B. (December 1968). "Familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism". The Journal of Pediatrics. 73 (6): 882–888. doi:10.1016/s0022-3476(68)80241-0. ISSN 0022-3476. PMID 5696314.
- ↑ "OMIM Entry - 107500 - AORTIC ARCH ANOMALY WITH PECULIAR FACIES AND MENTAL RETARDATION". www.omim.org. Retrieved 2022-05-21.