Feeding difficulties, and Encephalocele

Diseases related with Feeding difficulties and Encephalocele

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


Top matches:

Low match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).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
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12


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

Low match JOUBERT SYNDROME


Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

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Other less relevant matches:

Low match TREACHER COLLINS SYNDROME 1; TCS1


Treacher Collins syndrome is a disorder of craniofacial development. The features include antimongoloid slant of the eyes, coloboma of the lid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia. Conductive hearing loss and cleft palate are often present (Dixon, 1996). Genetic Heterogeneity of Treacher Collins SyndromeTreacher Collins syndrome-2 (TCS2 ) is caused by mutation in the POLR1D gene (OMIM ) on chromosome 13q12. Treacher Collins syndrome-3 (TCS3 ) is caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21.

TREACHER COLLINS SYNDROME 1; TCS1 Is also known as mfd1|tcs|treacher collins syndrome|tcof|mandibulofacial dysostosis|treacher collins-franceschetti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 1; TCS1

Low match JOUBERT SYNDROME WITH RENAL DEFECT


Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Low match JOUBERT SYNDROME WITH OCULAR DEFECT


Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Low match JOUBERT SYNDROME 2; JBTS2


Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Low match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Low match JOUBERT SYNDROME WITH HEPATIC DEFECT


Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Low match OROFACIODIGITAL SYNDROME TYPE 4


Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Top 5 symptoms//phenotypes associated to Feeding difficulties and Encephalocele

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Cerebellar vermis hypoplasia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Feeding difficulties and Encephalocele. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia

Common Symptoms - More than 50% cases


Ataxia

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears Muscular hypotonia Ptosis Agenesis of corpus callosum Anteverted nares Abnormality of cardiovascular system morphology Apnea Oral cleft Iris coloboma Scoliosis Oculomotor apraxia Molar tooth sign on MRI Nystagmus Hypertelorism Cleft palate Coloboma Macrocephaly Tremor Gait disturbance Retinal dystrophy Prominent nasal bridge Polydactyly Abnormal pattern of respiration Highly arched eyebrow Long face Biparietal narrowing Hearing impairment Hand polydactyly Abnormality of the hypothalamus-pituitary axis Occipital encephalocele Polymicrogyria Feeding difficulties in infancy Micrognathia Postaxial hand polydactyly Renal cyst Aganglionic megacolon Foot polydactyly Nephronophthisis Abnormality of eye movement Renal insufficiency Hepatic fibrosis Visual impairment Apraxia Conductive hearing impairment Microcephaly Microphthalmia Frontal bossing Postaxial polydactyly Growth delay Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Choanal atresia Myopia Flexion contracture Cataract Abnormality of the kidney Abnormal form of the vertebral bodies Sensorineural hearing impairment Short stature Aplasia/Hypoplasia of the corpus callosum Abnormality of neuronal migration Visual loss Malar flattening Glossoptosis Accessory oral frenulum Episodic tachypnea Motor delay Epicanthus Short nose Cerebellar hypoplasia Chorioretinal coloboma Micromelia Depressed nasal ridge Limb undergrowth Nephropathy Abnormality of the outer ear Elongated superior cerebellar peduncle Abnormality of the eye Low-set, posteriorly rotated ears Hypoplasia of the brainstem Abnormal joint morphology Thickened superior cerebellar peduncle Retinal coloboma Optic nerve coloboma Wide mouth Failure to thrive High palate Proptosis Neonatal hypotonia Depressed nasal bridge Renal dysplasia Stage 5 chronic kidney disease Cirrhosis Median cleft lip Round face Intestinal malrotation Gastrointestinal hemorrhage Monorchism Cholestasis Multicystic kidney dysplasia Portal hypertension Aplasia/Hypoplasia of the cerebellum Abnormality of abdomen morphology Neoplasm of the liver Esophageal varix Cholestatic liver disease Chronic kidney disease Hepatomegaly Abnormality of the liver Coronal cleft vertebrae Recurrent pneumonia Short long bone Prominent supraorbital ridges Epiphyseal dysplasia Flared metaphysis Mixed hearing impairment Disproportionate short stature Synostosis of carpal bones Meningocele Pierre-Robin sequence Vitreoretinopathy Beaking of vertebral bodies Enlarged joints Short 5th metacarpal Premature osteoarthritis Intellectual disability, moderate Enlarged epiphyses Prominent interphalangeal joints Abnormal lacrimal duct morphology Large tarsal bones Aplasia/Hypoplasia of the capital femoral epiphysis Spasticity Hypertension Hyperreflexia Intellectual disability, severe Splenomegaly Dilatation Inguinal hernia Elevated hepatic transaminase Abnormality of the nervous system Congenital hepatic fibrosis Brachydactyly Aplasia/Hypoplasia of the cerebellar vermis Porencephalic cyst Interphalangeal joint contracture of finger Rectal atresia Absent testis Cerebral cortical hemiatrophy Perineal fistula Aplasia/Hypoplasia of the tibia Tongue nodules Hamartoma of tongue Split hand Lobulated tongue Abnormal oral frenulum morphology Abnormality of the gingiva Abnormal oral mucosa morphology Subcortical cerebral atrophy Abnormality of the tongue Ambiguous genitalia Preaxial hand polydactyly Submucous cleft hard palate Hamartoma Short finger Abnormality of the ear Mesomelia Hypoplastic toenails Genu varum Rectovaginal fistula Short tibia Laryngomalacia Renal hypoplasia/aplasia Joint dislocation Short ribs Bowing of the long bones Bilateral lung agenesis Oligohydramnios Microtia, third degree Intrauterine growth retardation Severe short stature Recurrent respiratory infections Clinodactyly Pectus excavatum Cerebral atrophy Talipes equinovarus Primary adrenal insufficiency Cerebral cortical atrophy Abnormal facial shape Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the mandible Oral synechia Posteriorly rotated ears Retrognathia Specific learning disability Pulmonary hypoplasia Decreased testicular size Renal agenesis Short phalanx of finger Bifid uvula High, narrow palate Wide nose Anal atresia Skeletal dysplasia Talipes Toe syndactyly Finger syndactyly Short philtrum Camptodactyly of finger Cleft lip Rhizomelia Abnormal electroretinogram Abnormality of the metaphysis Protruding ear Hypoventilation Abnormally large globe Type II lissencephaly Agyria Cortical cataract Situs inversus totalis Cryptorchidism Respiratory insufficiency Respiratory distress Abnormality of the dentition Abnormal heart morphology Narrow mouth Microtia CNS hypomyelination Dental malocclusion Preauricular skin tag Sparse eyelashes Sleep apnea Reduced number of teeth Atresia of the external auditory canal Agenesis of permanent teeth Obstructive sleep apnea Choanal stenosis Abnormality of the nose Cleft soft palate Anotia Bilateral microphthalmos Congenital muscular dystrophy Poor head control Accessory spleen Muscle weakness Wide nasal bridge Recurrent infections Absent speech Rod-cone dystrophy EEG abnormality Deeply set eye Hirsutism Thick vermilion border Intellectual disability, profound Deep philtrum Enlarged cisterna magna Infra-orbital crease Ventriculomegaly Arnold-Chiari malformation Elevated serum creatine phosphokinase Glaucoma Reduced visual acuity Polyhydramnios Muscular dystrophy Severe global developmental delay Poor speech Retinal degeneration Bilateral sensorineural hearing impairment High myopia Progressive microcephaly Lissencephaly Respiratory insufficiency due to muscle weakness Lacrimal duct stenosis Mandibulofacial dysostosis Osteoarthritis Long philtrum Abnormal saccadic eye movements Metopic synostosis Abnormality of ocular smooth pursuit Hypoplastic male external genitalia Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Enlarged fossa interpeduncularis Noncommunicating hydrocephalus Abnormality of the skeletal system Ventricular septal defect Kyphosis Midface retrusion Abnormal corpus callosum morphology Delayed skeletal maturation Arthralgia Muscular hypotonia of the trunk Hyperlordosis Joint stiffness Platyspondyly Bulbous nose Short palm Retinal detachment Short metacarpal Otitis media Abnormality of the skin Lumbar hyperlordosis Rotary nystagmus Abnormal renal physiology Upper eyelid coloboma Blindness Lower eyelid coloboma Sparse lower eyelashes Ectopic adrenal gland Widely spaced primary teeth Projection of scalp hair onto lateral cheek Hypoplasia of the pharynx Abnormal parotid gland morphology Cognitive impairment Delayed gross motor development Breathing dysregulation Hypometric saccades Abnormal vertebral morphology Dextrocardia Camptodactyly Agenesis of cerebellar vermis Craniosynostosis Retinopathy Dolichocephaly Abnormality of the foot Abnormal cerebellum morphology Esotropia Dandy-Walker malformation Patent foramen ovale External genital hypoplasia Acute kidney injury Congenital blindness Impaired smooth pursuit Central apnea Absent crus of helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Arachnodactyly, related diseases and genetic alterations

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