Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies.
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemishpere enlargement.
Fryns and Van den Berghe (1979) observed a kindred in which several persons had scalp defects and postaxial polydactyly type A. They raised the question of this being a single gene trait. One person had both, 4 had scalp defects only, and 3 had postaxial polydactyly only. Buttiens et al. (1985) reported a sporadic case. Limb - Postaxial polydactyly type A Head - Scalp defects Inheritance - Autosomal dominant ▲ Close
Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated.
A number sign (#) is used with this entry because of evidence that hereditary mixed polyposis syndrome can be caused by heterozygous duplication on chromosome 15q13-q14 that causes increased and ectopic expression of the GREM1 gene (603054). Description The hereditary mixed polyposis syndrome (HMPS) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas (CRC). ... Most older individuals presented with colorectal carcinoma; younger individuals, most of whom had undergone screening by colonoscopy, tended to present with benign colonic lesions, often the characteristic polyp of the hereditary mixed polyposis syndrome. Linkage analysis data did not support linkage to the APC locus (611731) on chromosome 5 or to any of the loci for hereditary nonpolyposis colorectal cancer known at that time. ... Colorectal Cancer Susceptibility Jaeger et al. (2008) performed fine mapping with additional members of the Ashkenazi families with hereditary mixed polyposis syndrome, originally studied by Thomas et al. (1996) and Tomlinson et al. (1999), and identified a 0.6-Mb critical region on chromosome 15 containing 3 known genes, SGNE1 (173120), GREM1 (603054), and FMN1 (136535).
A number sign (#) is used with this entry because of evidence that hereditary mixed polyposis syndrome-2 (HMPS2) is caused by heterozygous mutation in the BMPR1A (601299) gene on chromosome 10q23.
Spastic paraplegia-nephritis-deafness syndrome is a complex form of hereditary spastic paraplegia characterized by progressive, variable spastic paraplegia associated with bilateral sensorineural deafness, intellectual disability, and progressive nephropathy.
The glomerular basement membrane showed none of the changes characteristic of Alport syndrome. A mother and her 2 sons and 1 daughter by 2 different fathers were affected.
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome on chromosome 7q11.23 (chr7:75.07-76.25 Mb, GRCh37) distal to the critical region for the Williams-Beuren syndrome (WBS; 194050). ... FISH and high-resolution chromosome analysis revealed interstitial deletion of 7q11.22-q11.23, consistent with WBS syndrome. However, using high-resolution mapping, Marshall et al. (2008) found that the deletion in this patient was 4.4-Mb in length, extended telomeric to the classic WBS region, and included the YWHAG gene (605356).
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears.
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy.
Johnston et al. (1993) described 2 infant brothers with joint contractures and hyperkeratotic skin changes. Severe hypoplasia of the dorsal roots and posterior columns was found in 1 sib examined at autopsy.
A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia.
Evans et al. (2000) reported a Canadian Aboriginal family in which 3 sibs, born to third-cousin parents, had a similar syndrome. The first affected sib died within 1 hour after birth. ... Evans et al. (2000) reviewed 2 similarly affected sibs reported by Hennekam et al. (1994) as possible Bartsocas-Papas syndrome (263650). The disorder in the 5 cases of Evans et al. (2000) and Hennekam et al. (1994) appeared to have a more severe type of acrorenal disorder, inherited as an autosomal recessive. Tobias et al. (2001) described what they considered to be the first male case of acrorenal-mandibular syndrome, in an 18-week-old fetus. The fetus had bilateral renal agenesis, marked mandibular hypoplasia, and a claw-like deformity of the left foot resulting from a combination of ectrodactyly, syndactyly, and polydactyly. ... Girisha et al. (2012) reported another case of acrorenal-uterine-mandibular syndrome and reviewed previous reports of the disorder. They pointed out that the condition shares features of other syndromes with ectrodactyly and clefting (EEC1, 129900 and EEC3, 604292) and uterine and renal anomalies (MRKH syndrome, 277000).
Epibulbar lipodermoid – preauricular appendages – polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
EDICT (endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning) syndrome is a very rare eye disorder representing a constellation of autosomal dominantly inherited ocular findings, including early-onset or congenital cataracts, corneal stromal thinning, early-onset keratoconus, corneal endothelial dystrophy, and iris hypoplasia.
A number sign (#) is used with this entry because of evidence that EDICT syndrome is caused by heterozygous mutation in the MIR184 gene (613146) on chromosome 15q25. Description EDICT syndrome is an autosomal dominant syndromal anterior segment dysgenesis characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and thinning of the corneal stroma (Iliff et al., 2012). Syndromes with overlapping features have been reported, including cornea guttata with anterior polar cataracts (121390) and congenital corneal opacities, cornea guttata, and corectopia (608484). ... Jun et al. (2002) proposed the designation 'EDICT' syndrome to represent the clinical findings of endothelial dystrophy, iris hypoplasia, congenital cataract, and corneal stromal thinning. ... Nomenclature Giasin et al. (2012) suggested that the reported corneal phenotype in EDICT syndrome falls within the keratoconus/keratoglobus spectrum.
Deafness-craniofacial syndrome is characterised by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae).
Clinical Features Kassutto et al. (1987) described a family in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root, and small nasal alae. Both were born with a short frenulum of the tongue. Nose - Broad nasal root - Small nasal alae Inheritance - Autosomal dominant Mouth - Short tongue frenulum Facies - Facial asymmetry - Temporal alopecia - Frontal bossing Ears - Congenital hearing loss ▲ Close
13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.
An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.
A rare neoplastic disease characterized by infantile to childhood onset of evidence of bone marrow insufficiency/failure associated with increased risk for myelodysplastic syndrome or acute myeloid leukemia. Most patients present with petechiae, easy bruising, or anemia.
Clinical Features In 2 distantly related Amish boys, McKusick et al. (1968) observed absence deformity of the left leg, congenital cataract, and progressive scoliosis. One of the boys had also partial duplication of the left foot, imperforate anus, and partial paralysis of muscles supplied by the third cranial nerve. Roentgenographic evidence of generalized spondyloepiphyseal dysplasia was present in both, and both were shorter of stature than was accounted for solely by the spinal curvature. Both had dysplasia of the optic nerve and serious visual impairment even after extraction of the cataracts. Intellectual capacity was unimpaired. Inheritance All 4 parents of the boys with this rare disorder shared at least 2 ancestral couples in common, strongly suggesting autosomal recessive inheritance (McKusick et al., 1968).
Medical condition affecting newborn infants Meconium aspiration syndrome Other names Neonatal aspiration of meconium X-ray showing the extent of lung epithelial damage in response to meconium seen in neonates with meconium aspiration syndrome. ... "Why Does Meconium Cause Meconium Aspiration Syndrome? Current Concepts of MAS Pathophysiology". ... "Neurodevelopmental Outcome of Infants with Meconium Aspiration Syndrome: Report of a Study and Literature Review" . ... "Meconium Aspiration Syndrome and Persistent Pulmonary Hypertension of the Newborn". ... "Surfactant Lavage Therapy for Meconium Aspiration Syndrome: A Systematic Review and Meta-Analysis" .
Meconium aspiration syndrome is a serious condition in which a newborn breathes a mixture of meconium and amniotic fluid into the lungs around the time of delivery.
Czeizel (1983) described a lethal syndrome in 3 daughters of normal unrelated parents: one died at 2 months with omphalocele, posterior cleft palate, and uterus bicornis; the second died at 4 months with omphalocele, uvula duplex, and hydrocephalus internus; the third died at 1 year with omphalocele and cleft palate.
In both kindreds, some persons had ectrodactyly of the feet and less often ectrodactyly in the hands. No similar syndrome was found in the literature. Silengo et al. (1987) reported a sporadic case and another family in which 4 females in 3 generations were affected with considerable variability in expression. Zenteno et al. (1996) described a new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome. The 17-year-old proposita showed the classic malformation pattern: triphalangeal thumb, brachysyndactyly in the hands, and ectrodactyly in the feet. ... Inheritance Silengo et al. (1987) and Zenteno et al. (1996) reported families with triphalangeal thumb-brachyectrodactyly syndrome in an autosomal dominant inheritance pattern.