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Czeizel syndrome, also known as Lethal omphalocele-cleft palate syndrome, is a rare dysmorphic syndrome characterized by a cleft lip, a bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and Hydrocephalus internus. [1]
Usually, Czeizel Syndrome is seen during pregnancy and as a newborn. [1]
Adducted thumb syndrome recessive form is a rare disease affecting multiple systems causing malformations of the palate, thumbs, and upper limbs. The name Christian syndrome derives from Joe. C. Christian, the first person to describe the condition. Inheritance is believed to be autosomal recessive, caused by mutation in the CHST14 gene.
Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.
Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits, cleft lip with or without cleft palate (CL/P), and cleft palate only (CPO). The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve CL/P. VWS is distinct from other clefting syndromes due to the combination of cleft lip and palate (CLP) and CPO within the same family. Other features frequently associated with VWS include hypodontia in 10-81% of cases, narrow arched palate, congenital heart disease, heart murmur and cerebral abnormalities, syndactyly of the hands, polythelia, ankyloglossia, and adhesions between the upper and lower gum pads.
Zadik–Barak–Levin syndrome (ZBLS) is a congenital disorder in humans. Presenting conditions include primary hypothyroidism, cleft palate, hypodontia, and ectodermal dysplasia. It is the result of an embryonic defect in the mesodermal-ectodermal midline development.
Popliteal pterygium syndrome (PPS) is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome. The term PPS was coined by Gorlin et al. in 1968 on the basis of the most unusual anomaly, the popliteal pterygium.
Halal syndrome is a rare disorder characterised by microcephaly, cleft palate, and variable other anomalies. The disease is named after Fahed Halal, one of its discoverers.
Abruzzo–Erickson syndrome is an extremely rare disorder characterized by deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, radial synostosis, and short stature. It was first characterized by Abruzzo and Erickson in 1977 as a CHARGE like syndrome as variably expressed among a family of two brothers, their mother, and their maternal uncle. Members of this family exhibited many of the CHARGE symptoms, but notably did not have choanal atresia and the brothers experienced typical genital development. Due to the recent discovery of this disorder, its etiology is not fully known but it is understood that it arises from mutations on the TBX22 gene on the X-chromosome. The disorder is inherited in an X-linked recessive manner. There is currently no known cure but its symptoms can be treated.
Ho–Kaufman–Mcalister syndrome is a rare congenital malformation syndrome where infants are born with a cleft palate, micrognathia, Wormian bones, congenital heart disease, dislocated hips, bowed fibulae, preaxial polydactyly of the feet, abnormal skin patterns, and most prominently, missing tibia. The etiology is unknown. Ho–Kaufman–Mcalister syndrome is named after Chen-Kung Ho, R.L. Kaufman, and W.H. Mcalister who first described the syndrome in 1975 at Washington University in St. Louis. It is considered a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, noticeably low set ears, osteosclerosis, a cleft palate, gum hyperplasia, a hypoplastic nose, and eye proptosis. It is considered to be a lethal disease, and usually leads to death within a few hours of birth. However, a recent report describes two studies in which children with Raine syndrome have lived to 8 and 11 years old, so it is currently proposed that there is a milder expression that the phenotype can take.
Orofaciodigital syndrome 1 (OFD1), also called Papillon-Léage and Psaume syndrome, is an X-linked congenital disorder characterized by malformations of the face, oral cavity, and digits with polycystic kidney disease and variable involvement of the central nervous system.
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
Malpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome. It is characterized by facial clefting, a caudal appendage, growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the male genitalia. Abnormalities of the heart, and other skeletal malformations may also be present. The syndrome was initially described by Georges Malpuech and associates in 1983. It is thought to be genetically related to Juberg-Hayward syndrome. Malpuech syndrome has also been considered as part of a spectrum of congenital genetic disorders associated with similar facial, urogenital and skeletal anomalies. Termed "3MC syndrome", this proposed spectrum includes Malpuech, Michels and Mingarelli-Carnevale (OSA) syndromes. Mutations in the COLLEC11 and MASP1 genes are believed to be a cause of these syndromes. The incidence of Malpuech syndrome is unknown. The pattern of inheritance is autosomal recessive, which means a defective (mutated) gene associated with the syndrome is located on an autosome, and the syndrome occurs when two copies of this defective gene are inherited.
Ankyloblepharon is a medical condition, defined as the adhesion of the edges of the upper eyelid with the lower eyelid. Ankyloblepharon must be differentiated from blepharophimosis, in which palpebral aperture is reduced and there is telecanthus, but the eyelid margins are normal. Another condition similar to ankyloblepharon is symblepharon, in which the palpebral conjunctiva is attached to the bulbar conjunctiva. Recognition of ankyloblepharon necessitates systemic examination to detect associated abnormalities such as genitourinary and cardiac abnormalities and syndactyly.
Reardon-Hall-Slaney syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing, finger camptodactyly, skin dimpling, retrognathia and mandibular hypoplasia. Only 2 cases of this syndrome have been described in medical literature, both of those cases being a brother and sister who were born to consanguineous parents. This disorder is inherited in an autosomal recessive fashion.
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.
Brachial amelia, cleft lip, and holoprosencephaly, or Yim–Ebbin syndrome, is a very rare multi-systemic genetic disorder which is characterized by brachial amelia cleft lip, and forebrain defects such as holoprosencephaly. Approximately five cases of this disorder have been described in medical literature.
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