Hydrocephalus, and Omphalocele

Diseases related with Hydrocephalus and Omphalocele

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

Top matches:

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Related symptoms:

  • Micrognathia
  • Cleft palate
  • Low-set ears
  • Intrauterine growth retardation
  • Macrocephaly


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Other less relevant matches:

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

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Carpenter syndrome is a rare autosomal recessive disorder with the cardinal features of acrocephaly with variable synostosis of the sagittal, lambdoid, and coronal sutures; peculiar facies; brachydactyly of the hands with syndactyly; preaxial polydactyly and syndactyly of the feet; congenital heart defects; growth retardation; mental retardation; hypogenitalism; and obesity. In addition, cerebral malformations, oral and dental abnormalities, coxa valga, genu valgum, hydronephrosis, precocious puberty, and hearing loss may be observed (summary by Altunhan et al., 2011). Genetic Heterogeneity of Carpenter SyndromeCarpenter syndrome-2 (CRPT2 ), in which the features of Carpenter syndrome are sometimes associated with defective lateralization, is caused by mutation in the MEGF8 gene (OMIM ).

CARPENTER SYNDROME 1; CRPT1 Is also known as carpenter syndrome|acrocephalopolysyndactyly type ii|acps ii

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CARPENTER SYNDROME 1; CRPT1

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.

OTOPALATODIGITAL SYNDROME TYPE 2 Is also known as faciopalatoosseous syndrome|opd syndrome 2|opd ii syndrome|fpo|cranioorodigital syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about OTOPALATODIGITAL SYNDROME TYPE 2

High match FRYNS SYNDROME

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

FRYNS SYNDROME Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies|diaphragmatic hernia-abnormal face-distal limb anomalies syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRYNS SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Omphalocele

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hydronephrosis Common - Between 50% and 80% cases
Pulmonary hypoplasia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Ventricular septal defect

Uncommon Symptoms - Between 30% and 50% cases

Polyhydramnios

Common Symptoms - More than 50% cases

Cleft lip

Uncommon Symptoms - Between 30% and 50% cases

Preaxial polydactyly

Common Symptoms - More than 50% cases

Macrocephaly

Uncommon Symptoms - Between 30% and 50% cases

Syndactyly

Common Symptoms - More than 50% cases

Talipes equinovarus

Uncommon Symptoms - Between 30% and 50% cases

Short neck Clinodactyly Patent ductus arteriosus Abnormal cardiac septum morphology Intestinal malrotation Scoliosis Cryptorchidism Polydactyly Global developmental delay High palate Anencephaly Postaxial hand polydactyly Abnormality of cardiovascular system morphology Holoprosencephaly Spina bifida Anal atresia Median cleft lip Postaxial polydactyly Epicanthus Atrial septal defect Accessory spleen Intrauterine growth retardation Hypospadias Abnormality of the pinna Cleft upper lip Dandy-Walker malformation Microphthalmia Wide nasal bridge Frontal bossing Broad forehead Agenesis of corpus callosum Microcephaly Hydroureter Multicystic kidney dysplasia Ventriculomegaly Clinodactyly of the 5th finger Preaxial foot polydactyly Renal agenesis Depressed nasal bridge Joint contracture of the hand Limb undergrowth Single umbilical artery Short stature Encephalocele Brachydactyly Conductive hearing impairment Wide intermamillary distance Natal tooth Posteriorly rotated ears Flat face Dilatation Congenital diaphragmatic hernia Camptodactyly Cerebellar hypoplasia Renal dysplasia Hernia Talipes Coarctation of aorta Renal cyst Narrow chest Hearing impairment Premature birth Growth delay Anteverted nares Midface retrusion Short thumb Large fontanelles Retrognathia Oral cleft Tetralogy of Fallot Partial agenesis of the corpus callosum Bilateral cleft lip and palate Abnormality of the skeletal system Abnormal heart morphology Flexion contracture Failure to thrive Bilateral cleft lip Cystic renal dysplasia Seizures

Rare Symptoms - Less than 30% cases

Toe syndactyly Choanal atresia Respiratory distress Respiratory insufficiency Aganglionic megacolon Ectopic anus Abnormal facial shape Craniosynostosis Sclerosis of skull base Transposition of the great arteries Duodenal atresia Genu valgum Broad thumb Thoracic dysplasia Abnormal vertebral morphology Coxa valga Opacification of the corneal stroma Lobulated tongue Bifid scrotum Spina bifida occulta Cutaneous syndactyly Edema Small nail Short ribs Malar flattening Brachycephaly Ambiguous genitalia Generalized hypotonia Long philtrum Single transverse palmar crease Atelectasis Short palm Microretrognathia Increased bone mineral density Anophthalmia Broad clavicles High forehead Gastroesophageal reflux Abnormality of the dentition Low-set, posteriorly rotated ears Esophageal atresia Abnormality of the outer ear Postnatal growth retardation Broad ribs Vesicoureteral reflux Hypoplastic nipples Abnormality of the ribs Fibular aplasia Spontaneous abortion Hypoplastic left heart Broad face Arrhinencephaly Bifid nose Tracheal stenosis Broad neck Preaxial hand polydactyly Delayed closure of the anterior fontanelle Thoracic hypoplasia Hyperostosis Alobar holoprosencephaly Rocker bottom foot Cataract Median cleft lip and palate Downslanted palpebral fissures Pectus excavatum Tracheomalacia Flat occiput Hypotelorism Dental malocclusion Prominent forehead Iris coloboma Thin upper lip vermilion Skeletal dysplasia Abnormality of the genitourinary system Short nose Neural tube defect Abnormality of the diaphragm Abnormal lung lobation Bifid uvula Thickened calvaria Heterotopia External genital hypoplasia Splenomegaly Non-midline cleft lip Occipital encephalocele Abnormality of the genital system Bowing of the long bones Oligohydramnios Foot polydactyly Mixed hearing impairment Asplenia Pierre-Robin sequence Cystic hygroma Wide mouth Webbed neck Polysplenia Flared iliac wings Wide nasal base Prominent supraorbital ridges Abnormality of the nervous system Abnormality of the eye Wormian bones Blepharophimosis Ulnar bowing Chordee Lethal skeletal dysplasia Narrow palpebral fissure Finger clinodactyly Corneal opacity Amblyopia Short metatarsal Short hallux Depressed nasal ridge Oligodontia Overlapping fingers Short 1st metacarpal Severe global developmental delay Abnormality of the face Short distal phalanx of finger Gliosis Hypoplastic ilia Abnormality of the metacarpal bones Intellectual disability, profound Glossoptosis Myoclonus Coarse facial features Femoral bowing Growth hormone excess Abnormal vertebral segmentation and fusion Synostosis of carpal bones Carpal synostosis Spondylolysis Abnormal heart valve morphology Bilateral coxa valga Rudimentary fibula Pathologic fracture Tarsal synostosis Radial deviation of the 2nd finger Ureteral obstruction Tibial bowing Accessory carpal bones Congenital glaucoma Anodontia Hypoplastic frontal sinuses Bulbous tips of toes Vertical clivus Irregular metacarpals Undulate clavicles Broad hallux Nonossified fifth metatarsal Blindness Elbow dislocation Myelomeningocele Areflexia Abnormality of the middle ear ossicles Cerebral cortical atrophy Radial bowing Bilateral conductive hearing impairment Delayed speech and language development Tented upper lip vermilion Abnormality of the metaphysis Nephroblastoma Overfolded helix Metaphyseal widening Increased susceptibility to fractures Pyloric stenosis Nasal speech Mutism Osteolysis Narrow palate Aortic valve stenosis Dental crowding Open mouth Aphasia Thick lower lip vermilion Lumbar hyperlordosis Narrow forehead Cerebral calcification Specific learning disability Abnormality of the skin Broad nasal tip Delayed eruption of teeth High, narrow palate Thick vermilion border Thin vermilion border Delayed cranial suture closure Dysphasia Arachnodactyly Flexion contracture of toe Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Rough bone trabeculation Asymmetry of the thorax Visual field defect Thoracolumbar kyphosis Otosclerosis White forelock Facial paralysis Large forehead Echolalia Misalignment of teeth Osteopetrosis Ankylosis Fibular hypoplasia Anal stenosis Submucous cleft hard palate Long face Ophthalmoplegia Pterygium Hypoplastic fingernail Gastroschisis Aplasia cutis congenita of scalp Chylothorax Abnormal aortic morphology Absent nipple Interrupted aortic arch Ureteral duplication Aplasia/Hypoplasia of the nipples Ovarian cyst Abnormality of the helix Bicornuate uterus Abnormality of finger Meckel diverticulum Retinal dysplasia Truncus arteriosus Thickened nuchal skin fold Overweight Shawl scrotum Oligodactyly Atrophy/Degeneration affecting the brainstem Thin ribs Hypoplasia of the uterus Anonychia Large for gestational age Proximal placement of thumb Shortening of all distal phalanges of the fingers Gastroparesis Dolichocephaly Hypoplasia of the corpus callosum Microtia Paralysis Hyperlordosis Apnea Facial palsy Hypothyroidism Severe short stature Headache Intellectual disability, mild Myopathy Intellectual disability, severe Cognitive impairment Prominent fingertip pads Ptosis Pain Neoplasm Hypoplasia of the optic tract Ectopic pancreatic tissue Absent left hemidiaphragm Postaxial oligodactyly Hypoplasia of olfactory tract Facial hirsutism Abnormal aortic arch morphology Urethral stricture Bilateral choanal atresia Congenital hip dislocation Potter facies Wide anterior fontanel Occipital meningocele Disproportionate short-limb short stature Bilateral single transverse palmar creases Short toe Renal hypoplasia Ascites Short foot Inguinal hernia Hepatomegaly Craniorachischisis Large placenta Patent foramen ovale Olfactory lobe agenesis Elevated amniotic fluid alpha-fetoprotein Hypoplasia of the bladder Urethral obstruction Cerebral hypoplasia Urethral atresia Meningoencephalocele Elevated alpha-fetoprotein Ambiguous genitalia, female Short long bone Metaphyseal irregularity Portal fibrosis Hamartoma of tongue Congestive heart failure Dysphagia Anemia Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Horizontal ribs Bowing of the legs Pancreatic cysts Bifid tongue Hypoplastic scapulae Microglossia Broad foot Protuberant abdomen Broad palm Short finger Milia Short thorax Cerebellar dysplasia Ambiguous genitalia, male Abnormality of the kidney Depressed nasal tip Fusion of the left and right thalami Absent nasal septal cartilage Hypoplasia of the premaxilla Semilobar holoprosencephaly Parietal bossing Midline defect of the nose Single median maxillary incisor Bilateral microphthalmos Panhypopituitarism Prominent nose Absent septum pellucidum Highly arched eyebrow Smooth philtrum Protruding ear Macrotia Upslanted palpebral fissure Calvarial skull defect Primary adrenal insufficiency Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Flat nasal alae Upper limb undergrowth Bile duct proliferation Hepatic fibrosis Abnormality of the larynx Abnormality of the uterus Breech presentation Meningocele Adrenal hypoplasia Abnormality of the ureter Radial deviation of finger Polycystic kidney dysplasia Arnold-Chiari malformation Sloping forehead Abnormal cortical gyration Proximal tibial hypoplasia Cleft in skull base Adrenal gland dysgenesis Agenesis of the diaphragm Bifid uterus Duplication of phalanx of hallux Laryngeal hypoplasia Severe hydrocephalus Abnormal vagina morphology Complete atrioventricular canal defect Pneumonia Respiratory tract infection Interphalangeal joint contracture of finger Sacral dimple Turricephaly Underdeveloped supraorbital ridges Agenesis of permanent teeth Metatarsus adductus Mild short stature Preauricular pit Precocious puberty Genu varum Delayed gross motor development Aplasia/Hypoplasia of the corpus callosum Coronal craniosynostosis Hypoplasia of the maxilla Microcornea Pulmonic stenosis Telecanthus Umbilical hernia Kyphoscoliosis Hypogonadism Obesity Cerebral atrophy Double outlet right ventricle Cloverleaf skull Motor delay Complete duplication of proximal phalanx of the thumb Short metacarpal Confusion Platyspondyly Camptodactyly of finger Narrow mouth Respiratory failure Duplication of the proximal phalanx of the hallux Lateral displacement of patellae Pseudoepiphyses of the proximal phalanges of the hand Aplasia/Hypoplasia of the middle phalanges of the toes Sagittal craniosynostosis Multiple suture craniosynostosis Large foramen magnum Craniofacial asymmetry Cranial asymmetry Aplasia/Hypoplasia of the middle phalanges of the hand Shallow acetabular fossae Abdominal wall defect Persistence of primary teeth Lambdoidal craniosynostosis Oxycephaly Optic atrophy Sensorineural hearing impairment Finger syndactyly Triphalangeal thumb Wheezing Abnormality of the sternum Vertebral segmentation defect Right bundle branch block Bundle branch block Ectopic kidney Dextrocardia Tracheoesophageal fistula Unilateral renal agenesis Radioulnar synostosis Aplasia/Hypoplasia of the radius Laryngomalacia Hypoplasia of the radius Tachypnea Hemivertebrae Situs inversus totalis Preauricular skin tag Recurrent urinary tract infections Hypoplasia of penis Tachycardia Facial asymmetry Absent radius Aplasia/Hypoplasia of the lungs Patent urachus Lower limb undergrowth Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Vertebral clefting Missing ribs Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Rectovaginal fistula Paranasal sinus hypoplasia


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