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Hydrolethalus syndrome 1(HLS1)

MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Synonyms: HLS1
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Gene (location): HYLS1 (11q24.2)
OMIM®: 236680

Clinical features

Heterotopia
MedGen UID:
40280
Concept ID:
C0008519
Pathologic Function
A mass of histologically normal tissue present in an abnormal location.
Cleft palate
MedGen UID:
3107
Concept ID:
C0008925
Congenital Abnormality
A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development.
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Ventricular septal defect
MedGen UID:
42366
Concept ID:
C0018818
Congenital Abnormality
A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
A condition of abnormally high AMNIOTIC FLUID volume, such as greater than 2,000 ml in the LAST TRIMESTER and usually diagnosed by ultrasonographic criteria (AMNIOTIC FLUID INDEX). It is associated with maternal DIABETES MELLITUS; MULTIPLE PREGNANCY; CHROMOSOMAL DISORDERS; and congenital abnormalities.
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
A congenital abnormality of the jaws (particularly the mandible) in which they are unusually small. This condition is not always pathological and may correct itself as the patient matures; however, it may also present as a birth defect in multiple syndromes.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.People with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.People with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.Between one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
Tracheal stenosis
MedGen UID:
21227
Concept ID:
C0040583
Disease or Syndrome
A pathological narrowing of the TRACHEA.
Arrhinencephaly
MedGen UID:
36258
Concept ID:
C0078982
Congenital Abnormality
Corpus callosum agenesis
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Agenesis of the diaphragm
MedGen UID:
67455
Concept ID:
C0221360
Congenital Abnormality
Congenital lack, i.e., aplasia of the diaphragm.
Bifid nose
MedGen UID:
66379
Concept ID:
C0221363
Finding
Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Supernumerary spleens
MedGen UID:
75619
Concept ID:
C0266631
Congenital Abnormality
An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance.
Absent septum pellucidum
MedGen UID:
96561
Concept ID:
C0431371
Congenital Abnormality
Absence of the septum pellucidum.
Abnormality of the pinna
MedGen UID:
140913
Concept ID:
C0431483
Congenital Abnormality
An abnormality of the pinna, which is also referred to as the auricle or external ear.
Laryngeal hypoplasia
MedGen UID:
96567
Concept ID:
C0431527
Congenital Abnormality
Underdevelopment of the larynx.
Postaxial hand polydactyly
MedGen UID:
609221
Concept ID:
C0431904
Congenital Abnormality
Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).
Lung segmentation defects
MedGen UID:
195782
Concept ID:
C0685695
Congenital Abnormality
Defects in the formation of pulmonary lobules.
Congenital omphalocele
MedGen UID:
162756
Concept ID:
C0795690
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Intrauterine growth retardation
MedGen UID:
473406
Concept ID:
C1386048
Pathologic Function
Complete atrioventricular canal defect
MedGen UID:
501123
Concept ID:
C1389018
Congenital Abnormality
A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect.
Preaxial hand polydactyly
MedGen UID:
237235
Concept ID:
C1395852
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
Hypospadias, penile
MedGen UID:
305577
Concept ID:
C1691215
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Upper limb undergrowth
MedGen UID:
324789
Concept ID:
C1837406
Finding
Arm shortening because of underdevelopment of one or more bones of the upper extremity.
Median cleft lip
MedGen UID:
342454
Concept ID:
C1850256
Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Bifid uterus
MedGen UID:
342474
Concept ID:
C1850327
Finding
The presence of a bifid uterus.
Broad neck
MedGen UID:
344099
Concept ID:
C1853638
Finding
Increased side-to-side width of the neck.
Adrenal gland dysgenesis
MedGen UID:
383820
Concept ID:
C1856017
Finding
Abnormal development of the adrenal gland.
Abnormal cortical gyration
MedGen UID:
343457
Concept ID:
C1856019
Finding
An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.
Abnormality of the vagina
MedGen UID:
343460
Concept ID:
C1856023
Finding
An abnormality of the vagina. [HPO:probinson]
Cleft in skull base
MedGen UID:
383822
Concept ID:
C1856027
Anatomical Abnormality
A bony defect in the skull base.
Proximal tibial hypoplasia
MedGen UID:
341040
Concept ID:
C1856029
Finding
Duplication of phalanx of hallux
MedGen UID:
395424
Concept ID:
C1860164
Finding
Partial or complete duplication of one or more phalanx of big toe.
Anencephaly
MedGen UID:
776557
Concept ID:
C2021655
Finding
Severe hydrocephalus
MedGen UID:
479753
Concept ID:
C3278123
Finding

Recent clinical studies

Etiology

Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER
Eur J Med Genet 2013 Jan;56(1):39-42. Epub 2012 Nov 7 doi: 10.1016/j.ejmg.2012.10.004. PMID: 23142271
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
Shashi V, Clark P, Rogol AD, Wilson WG
Am J Med Genet 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. PMID: 7645593
Seller MJ, Pal K, Docherty Z, Nash TG
Clin Dysmorphol 1994 Jan;3(1):35-9. PMID: 8205324

Diagnosis

Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A
Clin Dysmorphol 2001 Jan;10(1):51-5. PMID: 11152149
Ammälä P, Salonen R
Ultrasound Obstet Gynecol 1995 Jan;5(1):60-2. doi: 10.1046/j.1469-0705.1995.05010060.x. PMID: 7850595

Therapy

Shashi V, Clark P, Rogol AD, Wilson WG
Am J Med Genet 1995 May 22;57(1):22-6. doi: 10.1002/ajmg.1320570107. PMID: 7645593

Prognosis

Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER
Eur J Med Genet 2013 Jan;56(1):39-42. Epub 2012 Nov 7 doi: 10.1016/j.ejmg.2012.10.004. PMID: 23142271
Shotelersuk V, Punyavoravud V, Phudhichareonrat S, Kukulprasong A
Clin Dysmorphol 2001 Jan;10(1):51-5. PMID: 11152149

Clinical prediction guides

Walsh DM, Shalev SA, Simpson MA, Morgan NV, Gelman-Kohan Z, Chemke J, Trembath RC, Maher ER
Eur J Med Genet 2013 Jan;56(1):39-42. Epub 2012 Nov 7 doi: 10.1016/j.ejmg.2012.10.004. PMID: 23142271
Toriello HV, Bauserman SC
Am J Med Genet 1985 May;21(1):93-103. doi: 10.1002/ajmg.1320210114. PMID: 4003452

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