A rare non-syndromic uterovaginal malformation characterized by two separate uterine cavities and cervices, due to failure of the Müllerian ducts to fuse.
Contents 1 Signs and symptoms 2 Cause 2.1 Syndrome 3 Diagnosis 4 Management 5 Epidemiology 6 Multiple pregnancy 6.1 Triplets 7 See also 8 References 9 External links Signs and symptoms [ edit ] Persons with the condition may be asymptomatic and unaware of having a double uterus. ... It has been estimated to occur in 1/3,000 women. [2] Syndrome [ edit ] A specific association of uterus didelphys (double uterus), unilateral hematocolpos (inadequate draining of menstrual blood) and ipsilateral renal agenesis (having only one kidney) has been described. [3] Diagnosis [ edit ] A pelvic examination will typically reveal a double vagina and a double cervix.
Common clinical features are cardiac failure, cardiac conduction anomalies or arrhythmia, renal dysfunction, carpal tunnel syndrome and spinal canal stenosis. Histology reveals fibrillary amyloid deposition of wild type transthyretin mostly in the kidneys, heart, gastrointestinal tract, skin and tenosynovial tissue.
A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet.
A rare, non-syndromic, hereditary palmoplantar keratoderma characterized by diffuse, yellowish, thick hyperkeratosis of the palms and soles with a sharp demarcation at the volar border and an erythematous margin, and the epidermolytic pattern of changes on the skin biopsy, including perinuclear vacuolization, granular degeneration of keratinocytes in the spinous and granular layer, and tonofilament aggregates.
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger.
A number sign (#) is used with this entry because of evidence that mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is caused by homozygous mutation in the BHLHA9 gene (615416) on chromosome 17p13. Homozygous mutation in BHLHA9 also causes complex camptosynpolydactyly (CCSPD; 607539). A form of split-hand/foot malformation with long bone deficiency (SHFLD3; 612576) is associated with telomeric duplications of chromosome 17p13 involving BHLHA9. Description Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) represents a distinctive combination of clinical features that includes mesoaxial osseous synostosis at a metacarpal level, reduction of one or more phalanges, hypoplasia of distal phalanges of preaxial and postaxial digits, clinodactyly of fifth fingers, and preaxial fusion of toes (Malik et al., 2014). Clinical Features Percin et al. (1998) described a large inbred Turkish pedigree in which 9 affected individuals had type I syndactyly (see 185900).
NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum, and brainstem.
Microhydranencephaly Other names NDE1-related microhydranencephaly Microhydranencephaly ( MHAC ) is a severe abnormality of brain development characterized by both microcephaly and hydranencephaly . [1] Signs and symptoms may include severe microcephaly, scalp rugae (a series of ridges), and profound developmental delay . Familial occurrence of the condition is very rare but it has been reported in a few families. It has been suggested that MHAC is possibly inherited in an autosomal recessive manner involving a mutation of the gene NDE1 . [1] [2] Notable cases [ edit ] Jaxon Buell was born on August 27, 2014 with 80% of his brain, and most of his skull, missing. He surpassed all doctors expectations, who did not expect him to live to his second birthday. [3] He passed away at five years old. [4] References [ edit ] ^ a b Behunova, Jana; Zavadilikova, Eva; Bozoglu, Tarik M.; Gunduz, Aysegul; Tolun, Aslihan; Yalcinkaya, Cengiz (2010-01-01). "Familial microhydranencephaly, a family that does not map to 16p13.13-p12.2: relationship with hereditary fetal brain degeneration and fetal brain disruption sequence".
Microhydranencephaly is a developmental abnormality that affects the brain. Signs and symptoms may include extreme microcephaly, scalp rugae (a series of ridges), profound developmental delay and severe intellectual disability. Imaging studies of the brain generally reveal incomplete brain formation and severe hydrocephalus (accumulation of fluid in the brain). In most cases, the underlying cause is unknown. Rarely, the condition is caused by changes (mutations) in the NDE1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
A number sign (#) is used with this entry because of evidence that microhydranencephaly (MHAC) is caused by homozygous mutation in the NDE1 gene (609449) on chromosome 16p13. One such family has been reported. Mutation in the NDE1 gene can also cause lissencephaly-4 (LIS4; 614019). Description Microhydranencephaly (MHAC) is a severe neurodevelopmental defect characterized by extreme microcephaly, profound motor and mental retardation, spasticity, and incomplete cerebral formation. Radiologic studies show gross dilation of the ventricles resulting from the absence of cerebral hemispheres or severe delay in their development, as well as hypoplasia of the corpus callosum, cerebellum, and brainstem (summary by Guven et al., 2012). Clinical Features Kavaslar et al. (2000) reported a large consanguineous Anatolian (Turkish) family with children who had the unusual association of microcephaly and hydranencephaly.
Symbrachydactyly of hands and feet is a rare, non-syndromic limb reduction defect disorder characterized by unilateral or bilateral brachydactyly, cutaneous syndactyly and global hypoplasia of the hand and/or foot, with underlying muscles, tendons, ligaments and bones being affected but without other associated limb anomalies.
A number sign (#) is used with this entry because of evidence that optic atrophy-7 with or without auditory neuropathy (OPA7) is caused by homozygous mutation in the TMEM126A gene (612988) on chromosome 11q14. For a discussion of genetic heterogeneity of optic atrophy, see OPA1 (165500). Clinical Features In a large multiplex inbred Algerian family and subsequently in 3 other Maghreb families, Hanein et al. (2009) identified an autosomal recessive juvenile-onset optic atrophy characterized by severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma. Onset was between 4 and 6 years of age. The peripheral visual field was strictly normal in all but the oldest patient, who lost it between the ages of 30 and 37 years. Polarographic tests and spectrophotometric assays on cultured skin fibroblasts showed normal respiratory chain function in a patient from one family but partial deficiency of complex I in a patient from another family.
Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes.
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly is a rare, central nervous system malformation syndrome characterized by progressive microcephaly with profound motor delay and intellectual disability, associated with hypertonia, spasticity, clonus, and seizures, with brain imaging revealing severe cerebral and cerebellar atrophy, and poor myelination.
A number sign (#) is used with this entry because the phenotype, which is characterized by postnatal progressive microcephaly, seizures, and brain atrophy, is caused by homozygous mutation in the MED17 gene (603810) on chromosome 11. Clinical Features Kaufmann et al. (2010) reported 5 infants from 4 Jewish families from the Caucasus region with postnatal progressive microcephaly and severe developmental retardation associated with cerebral and cerebellar atrophy. One of the families was consanguineous. All pregnancies were uneventful, and the infants were born at term with normal head circumference. Ultrasound performed at 22 weeks' gestation in 1 affected infant showed normal brain structure. At 4 to 9 weeks of age, all developed swallowing difficulties leading to failure to thrive, jitteriness, poor visual fixation and lack of tracking, truncal arching, and seizures.
Low anorectal malformation is a rare, genetic, non-syndromic subtype of anorectal malformation, resulting from a developmental defect during embryogenesis, characterized by a wide spectrum of anorectal anomalies lying below the ischial tuberosity (e.g., anovestibular fistula in female, perineal and anocutaneous fistulas, and anal stenosis).
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth.
Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic.
Familial or multiple meningiomas may also be seen in tumor predisposition syndromes. Some patients with schwannomatosis (162091), caused by mutation in the SMARCB1 gene, may develop meningiomas.
A rare, mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies.
A number sign (#) is used with this entry because autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is caused by heterozygous mutation in the PLCG2 gene (600220) on chromosome 16q. See also PLAID (614468), an allelic disorder with some overlapping features. Description Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant systemic disorder characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract. Affected individuals have a mild humoral immune deficiency associated with recurrent sinopulmonary infections, but no evidence of circulating autoantibodies (summary by Zhou et al., 2012). Clinical Features Zhou et al. (2012) reported a father and daughter with a systemic autoinflammatory disorder characterized by early-onset recurrent blistering skin lesions, nonspecific interstitial pneumonitis with respiratory bronchiolitis (NSIP), arthralgia, eye inflammation, enterocolitis, cellulitis, and recurrent sinopulmonary infections.
Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities.
The absence of skin defects distinguishes this form from Clouston syndrome (129500). Inheritance - Autosomal dominant Nails - Dystrophic thickened nails - Unattached distal half of nails Skin - No skin defects - Normal sweating Hair - Short, thin, sparse, pale scalp hair - Absent eyebrows - Short, sparse eyelashes - Sparse axillary and pubic hair Teeth - Normal teeth Cardiac - Episodic supraventricular tachycardia - Bradycardia ▲ Close
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps.
Graham et al. (1986) described adult female twins with unilateral terminal transverse defects affecting the left hand in one and the right hand in the other. The latter woman had a daughter with a unilateral transverse defect affecting the left hand. The hand anomaly was characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb. Tiny nail remnants were evident on the digital stumps. No soft tissue syndactyly was present. The other hand and both feet were clinically and radiologically normal in each of the 3 persons.