Hearing impairment, and Encephalocele

Diseases related with Hearing impairment and Encephalocele

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

Top matches:

Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Related symptoms:

  • Seizures
  • Hearing impairment
  • Cleft palate
  • Ptosis
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 10; MKS10

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

Other less relevant matches:

Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 21; JBTS21

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Low match FRONTORHINY

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Encephalocele

Symptoms // Phenotype % cases
Cleft palate Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Occipital encephalocele Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Encephalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Heterotopia Hypoplasia of the brainstem Muscular dystrophy Cerebellar hypoplasia Hydrocephalus Hypertelorism Generalized hypotonia Global developmental delay Microphthalmia

Rare Symptoms - Less than 30% cases

Hypospadias Epicanthus Polydactyly Micropenis Renal cyst Molar tooth sign on MRI Scoliosis Intellectual disability Sensorineural hearing impairment Cleft lip Agenesis of corpus callosum Coloboma Retinal degeneration Hypoplasia of the maxilla Iris coloboma Dermoid cyst Strabismus Anophthalmia Reduced number of teeth Choanal atresia Cerebellar vermis hypoplasia Ventriculomegaly Macrocephaly Type II lissencephaly Severe global developmental delay Polymicrogyria Lissencephaly Delayed puberty Bilateral cleft lip Abnormal eyelid morphology Myelomeningocele Bilateral cleft lip and palate High anterior hairline Conical tooth Unilateral cleft lip Abnormal hair quantity Distichiasis Overfolded helix Epidermoid cyst Meningoencephalocele Thyroid agenesis Ectropion of lower eyelids Lacrimal duct stenosis Euryblepharon Vertebral fusion Ectropion Abnormality of the sense of smell Hypodontia Sparse hair Finger syndactyly Carious teeth Anal atresia Cleft upper lip Oral cleft Flat face Aplasia of the nose Brachydactyly Ectodermal dysplasia Small nail Opacification of the corneal stroma Cutaneous syndactyly Oligodontia Frontal encephalocele Abnormality of vision Aplasia/Hypoplasia involving the nose Multiple rows of eyelashes Camptodactyly of finger Low-set, posteriorly rotated ears Midface retrusion Cryptorchidism Limb-girdle muscular dystrophy Anosmia Low-set ears High palate Visual impairment Edema Scrotal hypoplasia Midline nasal groove Hernia Inguinal hernia Hypogonadism Hypogonadotrophic hypogonadism Primary amenorrhea Corneal opacity Dental malocclusion Synophrys Basal encephalocele Lipoma of corpus callosum Broad nasal tip Lacrimation abnormality Diastema Hypoplasia of teeth Lumbar hyperlordosis Preauricular skin tag Finger clinodactyly Aplasia/Hypoplasia of the corpus callosum Diabetes insipidus Hypopituitarism Preauricular pit Hyposmia Widow's peak Bifid tongue Hypoplastic frontal sinuses Congenital conductive hearing impairment Hypoplastic labia majora Cranium bifidum occultum Agenesis of permanent teeth Abnormality of the eye Hydranencephaly Conductive hearing impairment Flexion contracture Abnormality of the pinna Postaxial polydactyly Exotropia Narrow palpebral fissure Sacral dimple Anencephaly Microcephaly Muscle weakness Feeding difficulties Patent ductus arteriosus Myopia Elevated serum creatine phosphokinase Glaucoma Reduced visual acuity Polyhydramnios Neonatal hypotonia Poor speech Bilateral sensorineural hearing impairment Retrognathia Frontal bossing Progressive microcephaly Coma Muscular hypotonia Optic atrophy Gait disturbance Mental deterioration Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Neurodegeneration Abnormal cerebellum morphology Right hemiplegia Tetraplegia Spastic tetraplegia Progressive neurologic deterioration Absence seizures Leukoencephalopathy Hemiplegia Infantile spasms Porencephalic cyst Gray matter heterotopias High myopia Respiratory insufficiency due to muscle weakness High forehead Single naris Nephronophthisis Bell-shaped thorax Abnormal pattern of respiration Hyperechogenic kidneys Wide cranial sutures Posterior fossa cyst Elongated superior cerebellar peduncle Cerebellar malformation Neoplasm Oculomotor apraxia Abnormal facial shape Blindness Abnormality of the dentition Syndactyly Clinodactyly Posteriorly rotated ears Upslanted palpebral fissure Hypothyroidism Tachypnea Short ribs Arnold-Chiari malformation Ataxia Poor head control CNS hypomyelination Congenital muscular dystrophy Hypoventilation Abnormally large globe Retinal coloboma Agyria Cortical cataract Nystagmus Decreased liver function Hypoplasia of the corpus callosum Dyspnea Apnea Retinopathy Pulmonary hypoplasia Dandy-Walker malformation Apraxia Large fontanelles Hepatic fibrosis Absent paranasal sinuses


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