Hydrocephalus, and Umbilical hernia

Diseases related with Hydrocephalus and Umbilical hernia

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

Top matches:

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Axenfeld-Rieger syndrome is an autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals (Fitch and Kaback, 1978). Systemic anomalies are associated, including dental hypoplasia, failure of involution of periumbilical skin, and maxillary hypoplasia (Alkemade, 1969). Genetic Heterogeneity of Axenfeld-Rieger SyndromeLinkage studies indicate that a second type of Axenfeld-Rieger syndrome maps to chromosome 13q14 (RIEG2 ). A third form of Axenfeld-Rieger syndrome (RIEG3 ) is caused by mutation in the FOXC1 gene (OMIM ) on chromosome 6p25.See {109120} for a form of Axenfeld-Rieger syndrome associated with partially absent eye muscles, hydrocephalus, and skeletal abnormalities.

AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1 Is also known as rieger syndrome, type 1|rgs|rieg

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AXENFELD-RIEGER SYNDROME, TYPE 1; RIEG1

High match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME Is also known as polysyndactyly with peculiar skull shape|gcps

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GREIG CEPHALOPOLYSYNDACTYLY SYNDROME

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

High match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

MARFAN SYNDROME TYPE 1 Is also known as aortic aneurysm, familial thoracic 3|marfan syndrome, type ii, formerly|mfs1|aat3

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARFAN SYNDROME TYPE 1

Mucopolysaccharidosis type 2 (MPS2, see this term), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.

MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM Is also known as mucopolysaccharidosis type ii, severe form|mps2a|iduronate 2-sulfatase deficiency type a|mucopolysaccharidosis type 2a|hunter syndrome type a|mpsiia|mucopolysaccharidosis type iia

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, SEVERE FORM

Hajdu-Cheney syndrome is a rare autosomal dominant skeletal disorder characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies. Facial features include hypertelorism, bushy eyebrows, micrognathia, small mouth with dental anomalies, low-set ears, and short neck. There is progressive focal bone destruction, including acroosteolysis and generalized osteoporosis. Additional and variable features include hearing loss, renal cysts, and cardiovascular anomalies (summary by Ramos et al., 1998; Simpson et al., 2011; Isidor et al., 2011).

HAJDU-CHENEY SYNDROME; HJCYS Is also known as acroosteolysis with osteoporosis and changes in skull and mandible|sfpks|cheney syndrome|arthrodentoosteodysplasia|serpentine fibula-polycystic kidney syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about HAJDU-CHENEY SYNDROME; HJCYS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Umbilical hernia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Low-set ears Macrocephaly Short stature Seizures Inguinal hernia Short neck Hypospadias Hearing impairment Abnormal facial shape Downslanted palpebral fissures Coarse facial features Abnormal cardiac septum morphology Scoliosis Arnold-Chiari malformation Abnormality of the face Proptosis Narrow mouth Frontal bossing Micrognathia Depressed nasal bridge Mandibular prognathia Epicanthus Macroglossia Protruding tongue Cleft palate Long philtrum Patent ductus arteriosus Craniosynostosis Polydactyly Telecanthus Malar flattening Kyphosis Abnormality of the skeletal system Strabismus Wide nasal bridge Failure to thrive

Rare Symptoms - Less than 30% cases

Hyperactivity Growth delay Thick eyebrow Recurrent infections Joint hypermobility High forehead Recurrent fractures Mitral valve prolapse Metopic synostosis Conductive hearing impairment High anterior hairline Pectus excavatum Communicating hydrocephalus Delayed cranial suture closure Large for gestational age Trigonocephaly Narrow palpebral fissure Optic atrophy Hirsutism Syndactyly Kyphoscoliosis Agenesis of corpus callosum Prominent forehead Camptodactyly Small nail Bifid uvula Brachydactyly Postaxial polydactyly Retrognathia Overgrowth Joint contracture of the hand Tall stature Accelerated skeletal maturation Short nose Medulloblastoma High palate Joint laxity Osteoporosis Pain Choanal atresia Abnormality of the skull Narrow palate Dolichocephaly Reduced number of teeth Atrial septal defect Ventriculomegaly Confusion Ventricular septal defect Abnormality of the dentition Absent distal phalanges Cardiac fibroma Protrusio acetabuli Dural ectasia Preauricular skin furrow Mild myopia Odontogenic keratocysts of the jaw Arterial tortuosity Ascending aortic dissection Oral cleft Pulmonary artery aneurysm Basal cell carcinoma Plantar pits Descending thoracic aorta aneurysm Spontaneous pneumothorax Ovarian fibroma Bicuspid pulmonary valve Microphthalmia Calcification of falx cerebri Feeding difficulties Palmar pits Rhabdomyosarcoma Generalized arterial tortuosity Abnormality of the ribs Hepatomegaly Thickened ears Ascending tubular aorta aneurysm Thoracic aortic aneurysm Exotropia Retinopathy Pectus carinatum Delayed eruption of teeth Broad forehead Cataract Arachnodactyly Chest pain Nephroblastoma Blue sclerae Muscular hypotonia Dental crowding Pes planus Bicuspid aortic valve Myopia Ectopia lentis Aortic aneurysm Myopathic facies Disproportionate tall stature Pes cavus Striae distensae Dilatation of the cerebral artery Dilatation Aortic dissection Spondylolisthesis Talipes equinovarus Dermal translucency Joint hyperflexibility Abnormality of the vertebral column Recurrent upper respiratory tract infections Edema Dental malocclusion Pathologic fracture Metatarsus adductus Osteolysis Wormian bones Increased bone mineral density Abnormal vertebral morphology Long eyelashes Bowing of the long bones Intestinal malrotation Dislocated radial head Full cheeks Renal cyst Wide nose Genu valgum Synophrys Paralysis Protruding ear Skeletal dysplasia Osteopenia Vertebral fusion Proportionate short stature Abnormality of nasopharyngeal adenoids Large sella turcica Elongated sella turcica Tall lumbar vertebral bodies Crowded carpal bones Serpentine fibula Bilateral vocal cord paralysis Foot acroosteolysis Basilar invagination Cervical instability Basilar impression Absent frontal sinuses Premature loss of teeth Short nail Platybasia Biconcave vertebral bodies Generalized osteoporosis Large earlobe Osteolytic defects of the phalanges of the hand Vertebral compression fractures Vocal cord paralysis Radial bowing Renal insufficiency Localized skin lesion Behavioral abnormality Abnormality of the cardiovascular system Prominent scrotal raphe Increased intracranial pressure Tachypnea Progressive hearing impairment Thickened skin Mitral regurgitation Recurrent otitis media Pulmonary arterial hypertension Cyanosis Pericardial effusion Limitation of joint mobility Ascites Tachycardia Joint stiffness Postnatal growth retardation Developmental regression Aggressive behavior Hepatosplenomegaly Dyspnea Heart murmur Distal arthrogryposis Dysplastic aortic valve Obstructive lung disease Focal seizures, afebril Intervertebral space narrowing Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Short digit Anisopoikilocytosis Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Morphological abnormality of the central nervous system J-shaped sella turcica Protuberant abdomen Abnormality of the optic disc Hyperplasia of the maxilla Hypochromic anemia Inspiratory stridor Thoracolumbar kyphosis Increased mean corpuscular volume Beaking of vertebral bodies Edema of the lower limbs Insomnia Palmoplantar cutis gyrata Midface retrusion Prominent umbilicus Neurodegeneration Recurrent pneumonia Lymphopenia Sinusitis Bronchiectasis Otitis media Decreased antibody level in blood Sepsis Flat face Combined immunodeficiency Malabsorption Respiratory tract infection Recurrent respiratory infections Pneumonia Immunodeficiency Diarrhea Anemia Malnutrition Bronchitis Axenfeld anomaly Intrauterine growth retardation Wide mouth Hypertrophic cardiomyopathy Obesity Absent speech Hypertonia Cardiomyopathy Hypoplasia of the corpus callosum Sensorineural hearing impairment Shawl scrotum Microcephaly Impaired T cell function Abnormality of neutrophils Decrease in T cell count Abnormality of chromosome stability Cellular immunodeficiency Chronic bronchitis Agammaglobulinemia Abnormally prominent line of Schwalbe Bilateral choanal atresia Thin vermilion border Maternal diabetes Thin upper lip vermilion Glaucoma Visual loss Blindness Muscle weakness Premature rupture of membranes Everted upper lip vermilion Short columella Anal atresia Long palpebral fissure Deep philtrum Premature birth Round face Blepharophimosis Polyhydramnios Generalized hypotonia Short philtrum Everted lower lip vermilion Polycoria Anal stenosis Rieger anomaly Abnormality of the abdominal wall Anterior synechiae of the anterior chamber Hypoplasia of the iris Posterior embryotoxon Megalocornea Aniridia Abnormality of dental morphology Microcornea Myotonia Prominent supraorbital ridges Slurred speech Hypoplasia of dental enamel Microdontia Growth hormone deficiency Hypoplasia of the maxilla Hypodontia Severe global developmental delay Delayed myelination Palmoplantar cutis laxa Prominent nasal bridge Abnormality of vision Acanthosis nigricans Abnormality of the nail Gingival overgrowth Subcutaneous nodule Epidermal acanthosis Palmoplantar keratoderma Abnormality of the eye Melanocytic nevus Low-set, posteriorly rotated ears Macrotia Respiratory distress Hypertension Ptosis 1-3 toe syndactyly Duplication of the distal phalanx of hand Redundant skin Bifid scrotum Abnormality of calvarial morphology Abnormality of the pancreas Craniofacial dysostosis Visceral angiomatosis Oxycephaly Thickened helices Cloverleaf skull Redundant neck skin Aplasia/Hypoplasia of the earlobes Breech presentation Limited elbow extension Choanal stenosis Hypoplasia of the zygomatic bone Skin tags Hearing abnormality Turricephaly Underdeveloped supraorbital ridges Anteriorly placed anus Natal tooth 3-4 finger syndactyly Camptodactyly of toe Dandy-Walker malformation Skull asymmetry Toe syndactyly Hip dislocation Finger syndactyly Abnormal heart morphology Intellectual disability, mild Delayed speech and language development Cognitive impairment Periorbital fullness Postaxial hand polydactyly Severe failure to thrive Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Ventricular hypertrophy Postural instability Congenital diaphragmatic hernia Abnormality of muscle fibers Cutaneous finger syndactyly Cutaneous syndactyly of toes Preaxial foot polydactyly Broad hallux phalanx Abnormality of finger Postaxial foot polydactyly Foot polydactyly Scaphocephaly Abnormality of digit Broad thumb Partial agenesis of the corpus callosum Broad hallux Preaxial hand polydactyly Hyperglycemia Hand polydactyly Preaxial polydactyly Cutaneous syndactyly Plagiocephaly Cheyne-Stokes respiration


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