Hydrocephalus, and Oligohydramnios

Diseases related with Hydrocephalus and Oligohydramnios

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Oligohydramnios that can help you solving undiagnosed cases.

Top matches:

Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.

HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major|alpha-thalassemia hydrops fetalis|homozygous alpha0-thalassemia|hemoglobin bart's hydrops fetalis

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Hydrocephalus
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about HB BART'S HYDROPS FETALIS

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Related symptoms:

  • Micrognathia
  • Hydrocephalus
  • Syndactyly
  • Abnormality of the pinna
  • Wide nose


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRASER SYNDROME 3; FRASRS3

Related symptoms:

  • Short stature
  • Hypertelorism
  • High palate
  • Motor delay
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME 2; CLCRP2

Other less relevant matches:

Progeroid and marfanoid aspect-lipodystrophy syndrome is a rare systemic disease characterized by a neonatal progeroid appearance (not associated with other manifestations of premature aging) associated with facial dysmorphism (e.g. macrocephaly or arrested hydrocephaly, proptosis, downslanting palpebral fissures, retrognathia), generalized, extreme, congenital lack of subcutaneous fat tissue (except in the breast and iliac region) and incomplete signs of Marfan syndrome (mainly severe myopia, joint hyperextensibility and arachnodactyly). Metabolic disturbances are not associated.

PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME Is also known as marfanoid-progeroid syndrome|marfan-progeroid-lipodystrophy syndrome

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Hypertension
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID AND MARFANOID ASPECT-LIPODYSTROPHY SYNDROME

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

High match BOR SYNDROME

Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.

OSTEOCRANIOSTENOSIS Is also known as habrodysplasia|osteocraniostenosis|gracile bone dysplasia|skeletal dysplasia, lethal, with gracile bones|osteocraniosplenic syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOCRANIOSTENOSIS

Mosaic variegated aneuploidy is an autosomal recessive disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. The proportion of aneuploid cells varies but is usually more than 25% and is substantially greater than in normal individuals. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor, and leukemia reported in several cases (summary by Hanks et al., 2004). Genetic Heterogeneity of Mosaic Variegated Aneuploidy SyndromeSee also MVA2 (OMIM ), caused by mutation in the CEP57 gene (OMIM ) on chromosome 11q21, and MVA3 (OMIM ), caused by mutation in the TRIP13 gene (OMIM ) on chromosome 5p15.

MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1 Is also known as mva syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

Top 5 symptoms//phenotypes associated to Hydrocephalus and Oligohydramnios

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Intrauterine growth retardation Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Oligohydramnios. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Growth delay Abnormal facial shape Severe intrauterine growth retardation Seizures Cryptorchidism Macrocephaly Ventriculomegaly Generalized hypotonia Agenesis of corpus callosum Dilatation Retrognathia Cerebellar hypoplasia Craniosynostosis Depressed nasal bridge Low-set ears Clinodactyly Bowing of the long bones Global developmental delay Short stature Ambiguous genitalia Pulmonary hypoplasia Asplenia Multicystic kidney dysplasia Renal agenesis Syndactyly Dandy-Walker malformation

Rare Symptoms - Less than 30% cases

Sloping forehead Prominent forehead Hydronephrosis Urethral atresia Polycystic kidney dysplasia Failure to thrive Accessory spleen Myopia Intestinal malrotation Cerebral hypoplasia Encephalocele Anencephaly Epicanthus Talipes Renal dysplasia Cataract Postaxial hand polydactyly Posteriorly rotated ears Renal cyst Optic atrophy Short neck Intellectual disability Osteopenia Splenomegaly Abnormality of the pinna Wide nose Polymicrogyria Small for gestational age Bilateral renal agenesis Hypoplasia of the bladder High palate Motor delay Decreased skull ossification Micropenis Midface retrusion Pectus excavatum Proptosis Downslanted palpebral fissures Postnatal growth retardation Blue sclerae Brachydactyly Recurrent fractures Thin ribs Hypospadias Anteverted nares Short nose Multiple renal cysts Acute leukemia Triangular mouth Nystagmus Acute lymphoblastic leukemia Mild microcephaly Short sternum Cloverleaf skull Rhabdomyosarcoma Radial bowing Short hallux Premature chromatid separation Aniridia Embryonal rhabdomyosarcoma Hypodysplasia of the corpus callosum Slender long bone Hypokinesia Strabismus Spasticity Flexion contracture Delayed speech and language development Visual impairment Hypoplasia of the corpus callosum Flared metaphysis Lethal skeletal dysplasia Aplasia/hypoplasia of the extremities Ankyloglossia Amenorrhea Malar flattening Upslanted palpebral fissure Brachycephaly High forehead Feeding difficulties in infancy Leukemia Muscular dystrophy Severe global developmental delay Generalized tonic-clonic seizures Long philtrum Cerebral atrophy Generalized myoclonic seizures Intellectual disability, profound Immunodeficiency Primary amenorrhea Hyperpigmentation of the skin Sarcoma Myelodysplasia Limb-girdle muscular dystrophy Overtubulated long bones Wide nasal bridge Hypoplastic spleen Neoplasm Nephroblastoma Bifid scrotum Thin clavicles Combined immunodeficiency Hypertonia Anemia Depressivity Preaxial polydactyly Foot polydactyly Abnormality of the ureter Natal tooth Occipital encephalocele External genital hypoplasia Hydroureter Radial deviation of finger Arnold-Chiari malformation Meningocele Spontaneous abortion Spina bifida Hepatic fibrosis Abnormality of the genital system Omphalocele Coarctation of aorta Hypotelorism Webbed neck Adrenal hypoplasia Single umbilical artery Iris coloboma Lobulated tongue Occipital meningocele Large placenta Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Urethral obstruction Neural tube defect Meningoencephalocele Elevated alpha-fetoprotein Breech presentation Ambiguous genitalia, female Cerebellar dysplasia Portal fibrosis Ambiguous genitalia, male Cystic renal dysplasia Bile duct proliferation Abnormality of the larynx Abnormality of the uterus Postaxial polydactyly Cleft upper lip Abnormal heart morphology Short foot Low anterior hairline Lymphedema Wide anterior fontanel Small nail Wide intermamillary distance Gliosis Single transverse palmar crease Retinal detachment Cerebral palsy Short distal phalanx of finger Bulbous nose Congenital cataract Protruding ear Muscular hypotonia of the trunk Abnormality of the nervous system Deeply set eye Alopecia Narrow palpebral fissure Redundant skin Anal atresia Cutis marmorata telangiectatica congenita Abnormal cardiac septum morphology Wide mouth Cleft lip Polydactyly Patent ductus arteriosus Retinal nonattachment Adactyly High-pitched cry Dermal atrophy Retrocerebellar cyst Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Cutis marmorata Hyperostosis Lacrimal duct aplasia Growth abnormality Aortic root aneurysm Pes valgus Hyperextensibility of the finger joints Entropion Progeroid facial appearance Narrow nose Scaphocephaly Reduced subcutaneous adipose tissue Narrow palm Aortic aneurysm Ectopia lentis Lipodystrophy Relative macrocephaly Cutis laxa Increased body weight Dural ectasia Prominent scalp veins High myopia Male pseudohermaphroditism Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Furrowed tongue Sclerocornea Postaxial foot polydactyly Preaxial hand polydactyly Abnormality of cardiovascular system morphology Anophthalmia Aplasia/Hypoplasia of the corpus callosum Situs inversus totalis Depressed nasal ridge Full cheeks Microcornea Low-set, posteriorly rotated ears Tall stature Mitral valve prolapse Abnormal chorioretinal morphology Short toe Kyphosis Frontal bossing Cryptophthalmos Abnormal lung lobation Scrotal hypoplasia Cutaneous syndactyly Convex nasal ridge Triangular face Abnormal hemoglobin Preeclampsia Pericarditis Hydrops fetalis Pallor Polyhydramnios Congestive heart failure Platyspondyly Wormian bones Premature birth Gastroesophageal reflux High, narrow palate Bruising susceptibility Arachnodactyly Arthrogryposis multiplex congenita Prominent nasal bridge Pes planus Hypertension Microretrognathia Fractures of the long bones Narrow iliac wings Lambdoidal craniosynostosis Coronal craniosynostosis Turricephaly High pitched voice Reduced bone mineral density Aplasia/Hypoplasia of the iris Aplasia/Hypoplasia of the tongue Disproportionate short-limb short stature Renal steatosis Abnormality of the cerebrum Abnormality of the renal collecting system Hepatomegaly Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Hypoplasia of the cochlea Incomplete partition of the cochlea type II Cochlear malformation Renal malrotation Branchial fistula Arteria lusoria Branchial cyst Body odor Abnormal lacrimal duct morphology Dilatated internal auditory canal Overbite Ascites Hypocalcemia Cardiac arrest Progressive microcephaly Decreased fetal movement Limb undergrowth Abdominal distention Micromelia Cholesteatoma Short philtrum Coarse facial features Skeletal dysplasia Severe short stature Pneumonia Gustatory lacrimation Enlarged cochlear aqueduct Abnormality of the middle ear ossicles Lacrimal duct stenosis Pancreatic fibrosis Facial palsy Bifid uvula Flat face Long face Microtia Paralysis Abnormality of the kidney Conductive hearing impairment Microdontia Renal insufficiency Dysphagia Sensorineural hearing impairment Hearing impairment Cystic liver disease Lobar holoprosencephaly True hermaphroditism Vesicoureteral reflux Bilateral sensorineural hearing impairment Ureteropelvic junction obstruction Preauricular pit Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Mixed hearing impairment Premature graying of hair Ectopic kidney Epiphora Renal hypoplasia Cupped ear Atresia of the external auditory canal Renal hypoplasia/aplasia Congenital hip dislocation Narrow face Preauricular skin tag Atrial fibrillation Craniorachischisis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Neutropenia, related diseases and genetic alterations Intellectual disability, severe and Esotropia, related diseases and genetic alterations