Cat et al. (1974) described a new syndrome in 8 persons in 7 Brazilian families living in a restricted area of southern Parana. ... The disorder is probably distinguishable from the stiff-skin syndrome (184900) by the severe growth retardation, more malignant course, and probable mode of inheritance.
Parana hard skin syndrome is a rare genetic skin disorder characterized by very early-onset of progressive skin thickening over the entire body (except for eyelids, neck and ears), progressively limited joint mobility with gradual freezing of joints, and eventual severe chest and abdomen movement restriction, manifesting with restrictive pulmonary disease, which may lead to death.
Unclassified myelodysplastic syndrome (MDS-U) is a subtype of myelodysplastic syndrome (MDS; see this term) with atypical features of uncertain clinical significance.
Oculo-respiratory syndrome ( ORS ) is a usually transient condition characterized by bilateral conjunctivitis , facial edema , and upper respiratory symptoms following influenza immunization . ... References [ edit ] Skowronski, Danuta M.; Strauss, Barbara; De Serres, Gaston; MacDonald, Diane; Marion, Stephen A.; Naus, Monika; Patrick, David M.; Kendall, Perry (2003). "Oculo‐respiratory Syndrome: A New Influenza Vaccine–Associated Adverse Event?"
6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations. Epidemiology Isolated terminal 6q deletion syndrome is very rare with less than 20 cases being reported in the literature.
The historical figure, Julia Pastrana and her infant son, likely had this syndrome. The underlying cause of gingival fibromatosis with hypertrichosis is unknown, but speculated to involve a heritable contiguous gene deletion . ... The signs and symptoms of gingival fibromatosis with hypertrichosis overlap with a number of other gum overgrowth syndromes, such as Laband syndrome , juvenile hyaline fibromatosis and Jones syndrome . Improved understanding regarding the cause, will likely aid in distinguishing these syndromes in the future.
A number sign (#) is used with this entry because of evidence that congenital generalized hypertrichosis with or without gingival hyperplasia (HTC3) is caused by microdeletion or microduplication on chromosome 17q24.2-q24.3. There is also evidence that HTC3 is caused by mutation in the ABCA5 gene (612503) on chromosome 17q24. One such patient has been reported. Description Extreme hirsutism with gingival fibromatosis follows a dominant pattern of inheritance (Weski, 1920; Garn and Hatch, 1950). There is no necessary relationship between the age of development of the gingival changes and the hypertrichosis. The latter may be present at birth but often appears at puberty (Anderson et al., 1969).
A rare autosomal dominant disorder characterized by a generalized enlargement of the gingiva occurring at birth or during childhood that is associated with generalized hypertrichosis developing at birth, during the first years of life, or at puberty and predominantly affecting the face, upper limbs, and midback.
Gingival fibromatosis with hypertrichosis Specialty Dermatology Gingival fibromatosis with hypertrichosis is a cutaneous condition characterized by dark terminal hairs on the peripheral face, central back, and extremities. [1] It is a RASopathy . See also [ edit ] Cantú syndrome List of cutaneous conditions References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. ... Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner.
Androgen insensitivity syndrome AIS results when the function of the androgen receptor (AR) is impaired. ... She is then diagnosed with "testicular feminisation syndrome", the old term for AIS. [167] People with AIS [ edit ] Kitty Anderson (activist) [168] [169] Bonnie Hart [170] Phoebe Hart [171] Maria José Martínez-Patiño [172] Hanne Gaby Odiele [173] [174] Pidgeon Pagonis [175] Santhi Soundarajan [176] [177] Miriam van der Have [178] Kimberly Zieselman [179] People with Complete androgen insensitivity syndrome [ edit ] Georgiann Davis [180] Seven Graham [181] People with Partial androgen insensitivity syndrome [ edit ] Tony Briffa [182] [183] Favorinus of Arelate has been described as having partial androgen insensitivity syndrome. [184] [185] Small Luk [186] Eliana Rubashkyn [187] [188] [189] Sean Saifa Wall [190] See also [ edit ] Estrogen insensitivity syndrome Spinal and bulbar muscular atrophy References [ edit ] ^ Hughes IA, Deeb A (December 2006). ... Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects" . ... Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects" . ... "Assessment of the gonadotrophin-gonadal axis in androgen insensitivity syndrome" . Arch. Dis. Child . 80 (4): 324–9. doi : 10.1136/adc.80.4.324 .
Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss.
Duca et al. (1981) described mother and her 3 daughters with short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with deafness. See Wettke-Schafer and Kantner (1983) for discussion of possible X-linked dominant inheritance with lethality in hemizygous males. Joints - Hip dislocation Growth - Short stature Inheritance - Autosomal dominant vs. X-linked dominant with lethality in hemizygous males Ears - Microtia - Deafness Skel - Minor vertebral and pelvic changes ▲ Close
A rare ectodermal dysplasia syndrome characterized by the association of sparse, fine, dry, slow growing hair with variable dental abnormalities including oligodontia, peg-shaped incisors, and shell teeth.
Salinas and Spector (1980) reported 2 pedigrees in which an association of hypodontia and abnormal hair was found in 10 persons. Autosomal dominant inheritance of the disorder was confirmed in 2 other families (Kersey, 1987; Eteson and Clark, 1989). Missing teeth, peg-shaped incisors, and shell teeth were the most common dental abnormalities. The hair in most patients was fine, sparse, dull, and slow growing. There was considerable intra- and interfamilial variability. Giannotti et al. (1995) described a sporadic case of trichodental dysplasia in an Italian girl who also had mild microcephaly and mental retardation.
Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature.
Cantu et al. (1978) reported a family in which 9 individuals in 3 consecutive generations (including an instance of male-to-male transmission) were affected by a 'new' syndrome characterized by hyperpigmented spots, mainly in skin areas exposed to sunlight, and mild palmoplantar papular hyperkeratosis.
This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
Clinical Features Stewart and Bergstrom (1971) described a 'new' syndrome of arthrogryposis-like hand anomaly and sensorineural deafness. Both features of the syndrome varied widely in severity. Two members of the most recent generation had only the hand anomaly.
Distal 7q11.23 microduplication syndrome is a rare chromosomal anomaly characterized by a predominantly neuropsychiatric phenotype with a few dysmorphic characteristics.
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
Clinical Features In a family of Yemenite Jewish extraction, Frydman et al. (1992) described an autosomal recessive syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles. ... The clinical features and particularly the mode of inheritance distinguished this syndrome from other blepharophimosis-ptosis syndromes (e.g., 110100).
Temtamy and Sinbawy (1991) studied an Egyptian boy and girl, the offspring of unaffected first-cousin parents, who had congenital lamellar cataracts and generalized hypertrichosis dating from birth, mainly on the back, shoulders, and sides of the face. Hair - Generalized hypertrichosis, back, shoulders, and face Eyes - Congenital lamellar cataracts Neuro - Mental retardation Inheritance - Autosomal recessive ▲ Close
20p13 microdeletion syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs.
10q22.3q23.3 microduplication syndrome is a rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features.
Megacystic-megaureter syndrome is an urinary tract malformation characterized by the presence of a massive primary non-obstructive vesicoureteral reflux and a large capacity, smooth, thin walled bladder due to the continual recycling of refluxed urine.
In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes. About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. ... More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause of the condition is unknown. ... When congenital diaphragmatic hernia occurs as a feature of a genetic syndrome or chromosomal abnormality, it may cluster in families according to the inheritance pattern for that condition.