Descending perineum syndrome (also known as levator plate sagging ) [1] refers to a condition where the perineum "balloons" several centimeters below the bony outlet of the pelvis during strain, although this descent may happen without straining. [2] The syndrome was first described in 1966 by Parks et al . [3] Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 Epidemiology 6 References Signs and symptoms [ edit ] Abnormal descent of the perineum may be asymptomatic, but otherwise the following may feature: perineodynia (perineal pain) [1] Colo-proctological symptoms, e.g. obstructed defecation , [4] dyschesia (constipation), [1] or degrees of fecal incontinence [1] gynaecological symptoms, e.g. cystocele (prolapse of the bladder into the vagina) and rectocele (prolapse of the rectum into the vagina) [1] lower urinary tract symptoms, e.g. dysuria (painful urination), dyspareunia (pain during sexual intercourse), urinary incontinence and urgency [1] Other researchers concluded that abnormal perineal descent did not correlate with constipation or perineal pain, and there are also conflicting reports of the correlation of fecal incontinence with this condition. [2] Cause [ edit ] One of the main causes is suggested to be excessive and repetitive straining during defecation. [2] Other causes include weakness of the pelvic floor muscles (secondary to age-related neuropathic degeneration or traumatic injury during pregnancy and labor. ... A retro anal ultrasound scan may demonstrate the condition. [1] "Anti sagging tests", whereby the abnormal descent is corrected temporarily, may help to show whether symptoms are due to descending perineum syndrome or are in fact due to another condition. Normally, the anal margin lies just below a line drawn between the coccyx (tailbone) and the pubic symphysis . In descending perineum syndrome the anal canal is situated several cm below this imaginary line, or it descends 3–4 cm during straining. ... "Interest of retro-anal levator plate myorrhaphy in selected cases of descending perineum syndrome with positive anti-sagging test" . ... PMID 20135303 . ^ Parks, AG; Porter, NH; Hardcastle, J (June 1966). "The syndrome of the descending perineum" . Proceedings of the Royal Society of Medicine . 59 (6): 477–82. doi : 10.1177/003591576605900601 .
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation (SHFM; see this term) and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit.
A number sign (#) is used with this entry because of evidence that autosomal recessive split-hand/foot malformation-1 with sensorineural hearing loss (SHFM1D) is caused by homozygous mutation in the DLX5 gene (600028) on chromosome 7q21. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of split-hand/foot malformation, see SHFM1 (183600). Clinical Features Shamseldin et al. (2012) reported a consanguineous Yemeni family in which 2 daughters had split-hand/foot malformation as well as hearing impairment. The proband was a 6-year-old girl who had severe short stature but normal weight and head circumference, in whom development had been normal except for delayed walking due to the lower limb defects. Mild synophrys and low anterior hairline were noted. She had near-full dorsalization of the palms, tapered fingers, and cylindrical nails, as well as asymmetric short and severely deformed legs and feet.
Congenital hereditary facial paralysis-variable hearing loss syndrome is an extremely rare autosomal recessive disorder characterized by bilateral facial palsy with masked facies, sensorineural hearing loss, dysmorphic features (midfacial retrusion, low-set ears), and strabismus.
For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis (HCFP), see 601471. Clinical Features Fortanier and Speijer (1935) reported a family with hereditary facial weakness. Nicolai et al. (1986) reported further on this family, which had 9 affected members spanning 4 generations. Affected members had unilateral or bilateral facial weakness. Weakness of the muscles of the 3 branches of the facial nerve varied among individuals. Besides facial weakness, 3 patients also had variable hearing loss. In 1 patient with hearing loss, there was a deformity of the petrous portion of the temporal bone.
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
A number sign (#) is used with this entry because of evidence that orofaciodigital syndrome-5 (OFD5) is caused by homozygous mutation in the DDX59 gene (615464) on chromosome 1q32. ... Munke et al. (1990) noted oral frenula as a finding in Thurston syndrome. Shamseldin et al. (2013) studied 2 consanguineous multiplex Arab families with orofaciodigital syndrome. ... Mapping In 2 consanguineous multiplex Arab families with orofaciodigital syndrome, Shamseldin et al. (2013) performed autozygosity mapping and identified a shared minimal interval at chromosome 1q32.1 (chr1:197,262,220-201,811,027). ... Molecular Genetics In an affected individual from each of 2 consanguineous multiplex Arab families with orofaciodigital syndrome mapping to chromosome 1q32.1, Shamseldin et al. (2013) performed exome sequencing and identified homozygosity for different missense variants in the DDX59 gene (V367G, 615464.0001; G534R, 615464.0002).
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of auricular abnormalities (such as external ear abnormalities and postauricular pits) and cleft lip with or without cleft palate.
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly.
Clinical Features Alves et al. (1981) described a 20-year-old woman with an unusual ectodermal dysplasia/malformation syndrome comprised of generalized trichodysplasia, dry skin with scaling, hyperchromic spots on the limbs, hyperkeratosis (particularly intense on the soles), dermatoglyphic abnormalities, onychodysplasia, shortness of stature, kyphoscoliosis, unusual facial appearance, minor malformations of the limbs, bilateral nuclear cataract, narrow palpebral fissures, entropion, trichiasis, etc.
The first 2 patients were ascertained from a larger cohort of 111 parent-child trios with overgrowth syndrome, often associated with intellectual disability, who underwent exome sequencing.
PPP2R5D -related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability. Affected individuals have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; and delayed speech development. Recurrent seizures (epilepsy) and autism spectrum disorder, which is characterized by impaired communications and social interaction, can also occur in affected individuals. Most people with PPP2R5D -related intellectual disability have an unusually large head size (macrocephaly ), and some have other unusual facial features, including a prominent forehead (frontal bossing ), widely spaced eyes (hypertelorism ), and eyes that slant downward (downslanting palpebral fissures). Frequency PPP2R5D -related intellectual disability is a rare disorder.
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations.
Clinical Features Goldberg and Pashayan (1976) reported 10 members over 3 generations of a family with a syndrome involving syndactyly, polydactyly, and earlobe malformations.
Spondylocostal dysostosis-hypospadias-intellectual disability syndrome is a rare, genetic, bone developmental disorder characterized by generalized vertebral segmentation and fusion defects, disproportionate short stature (with predominant truncal shortness) and thoracolumbar scoliosis, associated with mild intellectual disability, hypospadias, partial cutaneous finger syndactyly and mild swan neck-like deformities of the fingers.
Clinical Features May and White (1968) described a new syndrome of familial myoclonus, cerebellar ataxia and deafness and concluded that it is autosomal dominant. Evidence is meager; however, a mother and son had the full syndrome. Hearing loss was noted in childhood or early adulthood. ... Chayasirisobhon and Walters (1984) observed the syndrome in identical twins. In both, bilateral hearing loss was detected at age 8 years and myoclonic jerks began at age 13.
Spigelian hernia-cryptorchidism syndrome is a rare developmental defect during embryogenesis characterized by a ventral, uni- or bilateral protrusion of extraperitoneal fat, peritoneum and/or intra-abdominal organs through a defect in the spigelian fascia (Spigelian hernia), associated with ipsi- or bilateral undescended testis (usually found within or just beneath the hernial sac) in male neonates.
Combined hyperactive dysfunction syndrome of the cranial nerves is a rare, acquired peripheral neuropathy characterized by symptoms arising from combined overactivity in cranial nerves, without any explanatory structural lesion.
Ravine syndrome is an extremely rare genetic neurological disorder, reported in a small number of patients in a specific community on Reunion Island (Ravine region), characterized by infantile anorexia with irrepressible and repeated vomiting, acute brainstem dysfunction, severe failure to thrive, and progressive encephalopathy with MRI showing vanishing of medulla oblongata and cerebellar white matter and severe atrophy of pons, along with supra-tentorial periventricular white-matter hyperintensities and basal ganglia anomalies.
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa.
Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips).
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet.
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies.