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Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium, transverse defects of the limbs, and mottling of the skin.
Aplasia is a birth defect where an organ or tissue is wholly or largely absent. It is caused by a defect in a developmental process.
SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation, and facial abnormalities. These characteristics are what make up the acronym SCARF. It shares some features with Lenz-Majewski hyperostotic dwarfism. It is a very rare disease with an incidence rate of approximately one in a million newborns. It has been clinically described in two males who were maternal cousins, as well as a 3-month-old female. Babies affected by this syndrome tend to have very loose skin, giving them an elderly facial appearance. Possible complications include dyspnea, abdominal hernia, heart disorders, joint disorders, and dislocations of multiple joints. It is believed that this disease's inheritance is X-linked recessive.
Cutis marmorata telangiectatica congenita is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised and described in 1922 by Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen Syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and Van Lohuizen syndrome.
Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies. The scalp is the most commonly involved area with lesser involvement of trunk and extremities. Frieden classified ACC with fetus papyraceus as type 5. This type presents as truncal ACC with symmetrical absence of skin in stellate or butterfly pattern with or without involvement of proximal limbs. It is the most common congenital cicatricial alopecia, and is a congenital focal absence of epidermis with or without evidence of other layers of the skin.
Peeling skin syndrome is an autosomal recessive disorder characterized by lifelong peeling of the stratum corneum, and may be associated with pruritus, short stature, and easily removed anagen hair.
Bart syndrome, also known as aplasia cutis congenita type VI, is a rare genetic disorder characterized by the association of congenital localized absence of skin, mucocutaneous blistering and absent and dystrophic nails.
Ruzicka Goerz Anton syndrome is a rare genetic disease described by Ruzicka et al. in 1981. It is characterized by icthyosis, deafness, intellectual disability, and skeletal anomalies.
Focal facial dermal dysplasia is a rare genetically heterogeneous group of disorders that are characterized by congenital bilateral scar like facial lesions, with or without associated facial anomalies. It is characterized by hairless lesions with fingerprint like puckering of the skin, especially at the temples, due to alternating bands of dermal and epidermal atrophy.
Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio-facial dysmorphy, premature hair greying and balding, dry and wrinkled palms, skeletal abnormalities, cryptorchidism, premature dementia and intellectual disabilities of variable severity.
Ectrodactyly with tibia aplasia/hypoplasia also known as cleft hand absent tibia is a very rare limb malformation syndrome which is characterized by ectrodactyly, and aplasia/hypoplasia of the tibia bone. Additional findings include cup-shaped ears, pre-postaxial polydactyly, and hypoplasia of the big toes, femur, patella, and ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance.
Van De Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in the hand, and split-foot. It was first discovered in 1978 by H van de Berghe et al. when he described four males of a two-generation family with a "lobster-claw foot" and an "ulnar defect". Minor severity of said ulnar defect and toe syndactyly in female members of the same family suggested that this disorder was transmitted in an X-linked recessive manner, although autosomal dominance with reduced penetrance wasn't excluded as an inheritance pattern.
Fibular aplasia-ectrodactyly syndrome is a very rare genetic disorder which is characterized by aplasia/hypoplasia of the fibula, ectrodactyly, and/or brachydactyly/syndactyly. Additional symptoms include shortness of the femur and tibial/knee/hip/ankle defects. This disorder is inherited in an autosomal dominant manner.
Hirschsprung's disease-type D brachydactyly syndrome is a very rare genetic disorder which is characterized by the partial absence of nerves in the intestines and hypoplasia of the thumb's distal phalange. It was first discovered in 1983 by Reynolds et al., when he described two brothers and two maternal uncles with Hirschsprung's disease and brachydactyly type D. The inheritance pattern was hypothesized to be either X-linked recessive or autosomal dominant with reduced penetrance.
Saito-Kuba-Tsuruta syndrome, also known as Fibulo-ulnar hypoplasia-renal anomalies syndrome, is a very rare genetic disorder which is characterized by fibulo-ulnar dysplasia associated with renal abnormalities. It is associated with neo-natal respiratory failure soon after birth.
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals. Only 19 affected families worldwide have been recorded in medical literature. It is associated with a heterozygous base pair substitution of A to G in position 404-406, located on intron 5 in the LMBR1 gene.
Amaurosis congenita, cone-rod type, with congenital hypertrichosis is a very rare genetic disorder which is characterized by ocular anomalies and trichomegaly. It is inherited in an autosomal recessive manner.Only 2 cases have been described in medical literature.
Ulna hypoplasia-intellectual disability syndrome is a very rare genetic disorder which is characterized by shortening of the arms associated with ulnar aplasia/hypoplasia, bilateral clubbed feet, widespread nail aplasia/hypoplasia, and severe psychomotor delays with intellectual disabilities. It has only been described in two siblings born to consanguineous Arab parents. It is thought to be inherited in an autosomal recessive manner.
Small patella syndrome is a rare genetic limb malformation syndrome which is characterized by absence or underdevelopment of the patella, ischiopubic junction abnormal ossification. Other findings include hallux varus, brachymetatarsia affecting the fourth and fifth metatarsals, flat feet, and the presence of an enlongated edial patellofemoral ligament. Less common findings include micrognathia, cleft palate, frontal bossing and nose prominence. Complications include infancy-onset recurrence of luxations, pain of the knee, impaired ability of running and riding bicycles, and late-onset gonarthrosis, although it is not uncommon for some cases to be asymptomatic. This condition is caused by autosomal dominant mutations in the TBX4 gene, in chromosome 17. Around 50-70 cases have been described in medical literature. Diagnosis is made through genetic testing and radiography.
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aplasia cutis congenita intestinal lymphangiectasia syndrome". www.orpha.net. Retrieved 2022-06-12.
- ↑ "Aplasia cutis congenita intestinal lymphangiectasia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-12.
- ↑ Bronspiegel, N.; Zelnick, N.; Rabinowitz, H.; Iancu, T. C. (1985-05-01). "Aplasia cutis congenita and intestinal lymphangiectasia. An unusual association". American Journal of Diseases of Children. 139 (5): 509–513. doi:10.1001/archpedi.1985.02140070083042. ISSN 0002-922X. PMID 3984978.
- ↑ "OMIM Entry - 207731 - APLASIA CUTIS CONGENITA WITH INTESTINAL LYMPHANGIECTASIA". omim.org. Retrieved 2022-06-12.