Hydrocephalus, and Congenital diaphragmatic hernia

Diseases related with Hydrocephalus and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Congenital diaphragmatic hernia 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

MICROPHTHALMIA, SYNDROMIC 12; MCOPS12 Is also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA, SYNDROMIC 12; MCOPS12

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Other less relevant matches:

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017).For a discussion of genetic heterogeneity of congenital hydrocephalus, see {233600}.

HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2 Is also known as hydrocephalus, nonsyndromic, autosomal recessive 2, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES; HYC2

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

Medium match KABUKI SYNDROME

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.

KABUKI SYNDROME Is also known as kabuki make-up syndrome|niikawa-kuroki syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about KABUKI SYNDROME

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

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

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Top 5 symptoms//phenotypes associated to Hydrocephalus and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Abnormal facial shape Abnormal cardiac septum morphology Wide nasal bridge Coloboma Depressed nasal bridge Feeding difficulties Scoliosis Cryptorchidism Atrial septal defect Pulmonary hypoplasia Ventricular septal defect Short stature Sensorineural hearing impairment Hypospadias Frontal bossing Anencephaly Abnormality of cardiovascular system morphology Hearing impairment Abnormal heart morphology Polyhydramnios Short neck Downslanted palpebral fissures Agenesis of corpus callosum Polydactyly Inguinal hernia Hip dislocation Macrocephaly Microdontia Finger syndactyly Preaxial polydactyly Syndactyly Prominent forehead Hypertelorism Ventriculomegaly Midface retrusion Muscular hypotonia Talipes equinovarus Micrognathia Growth delay Wide nose Microcephaly Brachycephaly Failure to thrive

Rare Symptoms - Less than 30% cases

Cognitive impairment Colpocephaly Patent foramen ovale Microretrognathia Laryngomalacia Ureteropelvic junction obstruction Multicystic kidney dysplasia Small hand Hypoplasia of penis Blue sclerae Intestinal malrotation Preauricular skin tag Congenital glaucoma Hemivertebrae Facial asymmetry Radioulnar synostosis Highly arched eyebrow Vertebral clefting Joint hyperflexibility Accelerated skeletal maturation Respiratory distress Blepharophimosis Congestive heart failure Anal atresia Tachycardia Preaxial hand polydactyly Mitral valve prolapse Ambiguous genitalia Hydronephrosis Mitral regurgitation Amblyopia Toe syndactyly Obesity Cerebral cortical atrophy Umbilical hernia Arrhythmia Conductive hearing impairment Glaucoma Iris coloboma Postaxial polydactyly Narrow chest Retrognathia Microphthalmia Sparse hair Oral cleft Micropenis Hyporeflexia Short metacarpal Pes planus Delayed speech and language development Thoracic hypoplasia Broad nasal tip Abnormality of the skeletal system Upper limb undergrowth Low-set ears Anophthalmia Postaxial hand polydactyly Omphalocele Motor delay Spina bifida Short chin Strabismus Cleft lip Anteverted nares Premature birth Tetralogy of Fallot Aggressive behavior Deeply set eye Autistic behavior Small nail Abnormality of the ribs Renal agenesis Respiratory tract infection Feeding difficulties in infancy Vesicoureteral reflux Sparse and thin eyebrow Choanal atresia Clinodactyly of the 5th finger Hypoplasia of the radius Tachypnea Abnormality of the outer ear Brachydactyly Situs inversus totalis Abnormal vertebral morphology Behavioral abnormality Malar flattening Upslanted palpebral fissure Thin upper lip vermilion Short thumb Hyperactivity Autism Large fontanelles Coarse facial features Renal dysplasia Abnormality of the kidney Recurrent urinary tract infections Abnormality of the genital system Postnatal growth retardation Intrauterine growth retardation Low-set, posteriorly rotated ears Eczema Tracheomalacia Supernumerary nipple Mild short stature Wide intermamillary distance Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Pyloric stenosis Short metatarsal Underdeveloped nasal alae Narrow forehead Narrow palpebral fissure Sparse scalp hair Broad-based gait Bifid scrotum Bilateral single transverse palmar creases Aortic valve stenosis Stereotypy Short phalanx of finger Overweight Round face Scarring Pain insensitivity Pneumonia Patent ductus arteriosus Dysphagia Attention deficit hyperactivity disorder Short toe Thin vermilion border Anemia Self-biting Abnormal aortic morphology Sleep disturbance Short palm Downturned corners of mouth Broad columella Subvalvular aortic stenosis Thick vermilion border Broad face Renal neoplasm Low hanging columella Short foot Triphalangeal thumb Abnormality of the nasopharynx Unilateral renal agenesis Low posterior hairline Bicuspid aortic valve Cutis laxa Sandal gap Joint dislocation Elbow flexion contracture Meningitis Lymphedema Rhizomelia Left ventricular hypertrophy Abnormal lung morphology Cardiomegaly Spondyloepiphyseal dysplasia Webbed neck Esotropia Recurrent fractures Thick eyebrow Flat face Arachnodactyly Talipes Genu valgum Abnormality of the foot Pulmonic stenosis Hyperextensible skin Metatarsus adductus Microtia Knee dislocation Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Lumbar scoliosis Bilateral talipes equinovarus Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Hypermetropia Pectus carinatum Tracheoesophageal fistula Absent radius Abnormality of the pancreas Atelectasis Rectovaginal fistula Duodenal atresia Tracheal stenosis Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Aplasia/Hypoplasia of the radius Wheezing Cavernous hemangioma Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Right bundle branch block Bundle branch block Ectopic kidney Dextrocardia Abnormality of female internal genitalia Tethered cord Joint laxity Abnormal tracheobronchial morphology Osteopenia Kyphoscoliosis Proptosis Narrow mouth Osteoporosis Delayed skeletal maturation Fever Flexion contracture Patent urachus Asymmetric crying face Perineal fistula Supernumerary ribs Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Abnormality of the intervertebral disk Lower limb undergrowth Laryngeal stenosis Neoplasm Abnormal sacrum morphology Pain Abnormality of dental enamel Anal fistula Joint contracture of the hand Partial agenesis of the corpus callosum Delayed cranial suture closure Broad hallux Large for gestational age Hyperglycemia Trigonocephaly Hand polydactyly Cutaneous syndactyly Plagiocephaly Broad thumb Cutaneous finger syndactyly Postural instability Hirsutism Confusion Craniosynostosis Camptodactyly Telecanthus High forehead Intellectual disability, mild Periventricular gray matter heterotopia Abnormality of digit Scaphocephaly Macular hypoplasia Abnormality of calvarial morphology Macrotia Recurrent infections Abnormality of the dentition High palate Ptosis Nystagmus 1-3 toe syndactyly Duplication of the distal phalanx of hand 3-4 finger syndactyly Camptodactyly of toe Foot polydactyly Abnormality of muscle fibers Metopic synostosis Cutaneous syndactyly of toes Medulloblastoma Preaxial foot polydactyly Broad hallux phalanx High anterior hairline Abnormality of finger Postaxial foot polydactyly Severe hydrocephalus Abnormal cortical gyration Protruding ear Muscular hypotonia of the trunk Edema Respiratory insufficiency Hypoplastic left atrium Bicornuate uterus Spastic tetraparesis Short palpebral fissure Tetraparesis Chorea Severe global developmental delay Dystonia Micromelia Spasticity Neural tube defect Abnormality of the diaphragm Calvarial skull defect Abnormal lung lobation Primary adrenal insufficiency Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Holoprosencephaly Abnormality of the pinna Polymicrogyria Communicating hydrocephalus Joint hypermobility Cortical gyral simplification Relative macrocephaly Lissencephaly Wide anterior fontanel Heterotopia Cholestasis Dandy-Walker malformation Bulbous nose Hepatic failure Posteriorly rotated ears Cerebellar vermis hypoplasia Cerebellar hypoplasia Hypoplasia of the corpus callosum Optic atrophy Short upper lip Aplastic clavicle Retinal coloboma Thoracic dysplasia Molar tooth sign on MRI Short ribs Hydrops fetalis EEG abnormality Microcornea Asymmetric, linear skin defects Aplasia/Hypoplasia of the skin Abnormal eyelid morphology Ocular albinism Sclerocornea Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Abnormality of the ear Echolalia Hypoplasia of the uterus Dysphasia Aphasia Albinism Preauricular pit Tricuspid regurgitation Ventricular fibrillation Clitoral hypertrophy Dermal atrophy Retinal dysplasia Supraventricular tachycardia Hypopigmented skin patches Functional motor deficit Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Ovotestis Abnormality of the testis Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Mutism Sacral dimple Hypodontia Abnormality of immune system physiology Eversion of lateral third of lower eyelids Lip pit Crossed fused renal ectopia Duplicated collecting system Butterfly vertebrae Abnormal localization of kidney Sparse lateral eyebrow Short 5th finger Short columella Short middle phalanx of finger Cardiomyopathy Mask-like facies Abnormality of dental morphology Precocious puberty Renal hypoplasia/aplasia Widely spaced teeth Abnormal dermatoglyphics Long eyelashes Abnormal form of the vertebral bodies Coarctation of aorta Cataract Blindness Intellectual disability, progressive Abnormality of skin pigmentation Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Abnormality of retinal pigmentation Status epilepticus Pigmentary retinopathy Specific learning disability Hypopigmentation of the skin Retinal dystrophy Nail dystrophy Abnormality of metabolism/homeostasis Dilated cardiomyopathy Corneal opacity Skin rash Erythema Hypertrophic cardiomyopathy Dyspnea Respiratory failure Hypogonadism Severe short stature Visual loss Bilateral elbow dislocations


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