Micrognathia, and Encephalocele

Diseases related with Micrognathia and Encephalocele

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Micrognathia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME 13; MKS13

Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (summary by Godfrey et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCLE-EYE-BRAIN DISEASE Is also known as meb syndrome|santavuori congenital muscular dystrophy|walker-warburg syndrome or muscle-eye-brain disease, pomgnt1-related|muscle-eye-brain syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MUSCLE-EYE-BRAIN DISEASE

Other less relevant matches:

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

Low match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

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

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HYDROLETHALUS SYNDROME 1; HLS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as cerebelloparenchymal disorder iv|jbts|cpd4|joubert syndrome|cerebellooculorenal syndrome 1|cors1|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 1; JBTS1

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.

VACTERL WITH HYDROCEPHALUS Is also known as vacterl-h|sujansky-leonard syndrome

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about VACTERL WITH HYDROCEPHALUS

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

Top 5 symptoms//phenotypes associated to Micrognathia and Encephalocele

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Occipital encephalocele Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hydrocephalus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Pulmonary hypoplasia Global developmental delay Cryptorchidism Hypertelorism Abnormality of cardiovascular system morphology Postaxial hand polydactyly Dandy-Walker malformation Polydactyly Cerebellar hypoplasia Generalized hypotonia Malar flattening Microcephaly Strabismus Accessory spleen Abnormal heart morphology Respiratory insufficiency Midface retrusion Macrocephaly Molar tooth sign on MRI Coloboma Cataract

Rare Symptoms - Less than 30% cases

Limb undergrowth Cerebellar vermis hypoplasia Renal hypoplasia Hypoplasia of the brainstem Meningocele Ambiguous genitalia Postaxial polydactyly Retinal dysplasia Renal cyst Anal atresia Abnormal form of the vertebral bodies Cleft lip Respiratory failure Hypospadias Omphalocele Depressed nasal ridge Bowing of the long bones Conductive hearing impairment Intrauterine growth retardation Low-set ears Polyhydramnios Heterotopia Anotia Glossoptosis Abnormality of the outer ear Arrhinencephaly Apnea Anteverted nares Rhizomelia Ptosis Hearing impairment Abnormality of the kidney Anencephaly Preaxial hand polydactyly Anophthalmia Holoprosencephaly Microcornea Cleft soft palate Preaxial polydactyly Aplasia/Hypoplasia of the corpus callosum Ventricular septal defect Skeletal dysplasia Oculomotor apraxia Micromelia Hip dislocation Short ribs Short nose Hypoplasia of the corpus callosum Optic atrophy Myopia Depressed nasal bridge Visual impairment Cognitive impairment Renal dysplasia Muscular hypotonia Median cleft lip Apraxia Ataxia Flexion contracture Agenesis of corpus callosum Long face Abnormality of the eye Highly arched eyebrow Downturned corners of mouth Prominent forehead Hyperactivity Mandibular prognathia Aggressive behavior Telecanthus Beaking of vertebral bodies Tachypnea Hepatic fibrosis Abnormality of skin pigmentation Premature osteoarthritis Prominent nasal bridge Coronal cleft vertebrae Open mouth Enlarged joints Retinal dystrophy Narrow forehead Macroglossia Abnormality of eye movement Short 5th metacarpal Abnormality of the foot Retinal detachment Absent speech Preaxial foot polydactyly Large tarsal bones Hydronephrosis Abnormality of the pinna Oral cleft Premature birth Absent septum pellucidum Abnormal lung lobation Upper limb undergrowth Broad neck Bilateral cleft lip Bilateral cleft lip and palate Tracheal stenosis Abnormal cortical gyration Abnormal lacrimal duct morphology Complete atrioventricular canal defect Protruding tongue Adrenal gland dysgenesis Tremor Epicanthus Abnormal facial shape Proximal tibial hypoplasia Enlarged epiphyses Cleft in skull base Agenesis of the diaphragm Bifid nose Bifid uterus Duplication of phalanx of hallux Laryngeal hypoplasia Severe hydrocephalus Prominent interphalangeal joints Abnormal vagina morphology Chorioretinal coloboma Breathing dysregulation Self-mutilation Single umbilical artery Absence of the sacrum Radial club hand Abnormality of the skin Femoral hernia Aqueductal stenosis Abnormality of the optic nerve Esophageal atresia Microtia, third degree Lumbar hyperlordosis Osteoarthritis Abnormality of the vertebral column Absent thumb Tracheoesophageal fistula Hypoplasia of the radius Abnormality of the fallopian tube Short stature Hemivertebrae Arthralgia Bulbous nose Platyspondyly Joint stiffness Hyperlordosis Feeding difficulties in infancy Muscular hypotonia of the trunk Proptosis Otitis media Delayed skeletal maturation Long philtrum Kyphosis Abnormality of the skeletal system Short metacarpal Sensorineural hearing impairment Renal hypoplasia/aplasia Spina bifida Impaired smooth pursuit Meningoencephalocele Brainstem dysplasia Dysgenesis of the cerebellar vermis Pierre-Robin sequence Episodic tachypnea Elongated superior cerebellar peduncle Abnormality of ocular smooth pursuit Abnormal saccadic eye movements Synostosis of carpal bones Abnormal pattern of respiration Agenesis of cerebellar vermis Vitreoretinopathy Short palm Central apnea Optic nerve coloboma Neonatal breathing dysregulation Disproportionate short stature Abnormal vertebral morphology Anemia Abnormality of the metaphysis Renal agenesis Retrognathia Short phalanx of finger Recurrent pneumonia Short long bone Prominent supraorbital ridges Abnormal joint morphology Triangular-shaped open mouth Occipital myelomeningocele Epiphyseal dysplasia Hemifacial spasm Flared metaphysis Mixed hearing impairment Enlarged fossa interpeduncularis Inguinal hernia Feeding difficulties Talipes equinovarus Congenital glaucoma High myopia Intellectual disability, profound Pachygyria EMG abnormality Opacification of the corneal stroma Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Optic nerve hypoplasia Abnormality of the voice Congenital muscular dystrophy Aplasia/Hypoplasia of the cerebellum Hemiplegia/hemiparesis Cortical dysplasia Retinal atrophy Everted lower lip vermilion Hypoglycosylation of alpha-dystroglycan Macrotia Patent ductus arteriosus Enlarged flash visual evoked potentials Short nasal bridge Hypoplasia of the retina Uncontrolled eye movements Cerebellar cyst Megalocornea Type II lissencephaly Cerebellar dysplasia Decreased light- and dark-adapted electroretinogram amplitude Buphthalmos Undetectable electroretinogram Hypoplasia of the pons Generalized muscle weakness Polymicrogyria Narrow chest Ventriculomegaly Retinopathy Polycystic kidney dysplasia Neoplasm Micropenis Hamartoma Microglossia Anterior hypopituitarism Glioma Hypothalamic hamartoma Seizures Nystagmus Muscle weakness Spasticity Gait disturbance Intellectual disability, severe Retinal degeneration Pallor Abnormality of movement Congenital cataract Abnormality of the cerebral white matter Severe global developmental delay Muscular dystrophy Neurological speech impairment Neonatal hypotonia Myopathy EEG abnormality Glaucoma Myoclonus Elevated serum creatine phosphokinase Dilatation Hypertonia Coarse facial features Prominent nose Abnormal parotid gland morphology Sleep apnea Cystic liver disease Downslanted palpebral fissures Respiratory distress Abnormality of the dentition Visual loss Narrow mouth Protruding ear Wide mouth Microtia Iris coloboma Dental malocclusion Choanal atresia Preauricular skin tag Sparse eyelashes Reduced number of teeth True hermaphroditism Upper eyelid coloboma Hypoplasia of the pharynx Projection of scalp hair onto lateral cheek Widely spaced primary teeth Ectopic adrenal gland Sparse lower eyelashes Lower eyelid coloboma Mandibulofacial dysostosis Atresia of the external auditory canal Lacrimal duct stenosis Bilateral microphthalmos Abnormality of the nose Choanal stenosis Obstructive sleep apnea Agenesis of permanent teeth Lobar holoprosencephaly Pancreatic fibrosis Spontaneous abortion Hypoplastic pelvis Unicoronal synostosis Hypoplastic facial bones Squared iliac bones Lobulated tongue Horizontal ribs Bifid tongue Thoracic dysplasia Talipes Flat acetabular roof Bell-shaped thorax Natal tooth Thoracic hypoplasia Relative macrocephaly Microretrognathia Low-set, posteriorly rotated ears Full cheeks Aplasia/Hypoplasia of the tongue Furrowed tongue Urethral atresia Abnormal chorioretinal morphology Aplasia/Hypoplasia of the iris Pancreatic cysts Ureteral duplication Congenital hepatic fibrosis Asplenia Sloping forehead Sclerocornea Postaxial foot polydactyly Male pseudohermaphroditism Multicystic kidney dysplasia Situs inversus totalis Oligohydramnios Aplasia/Hypoplasia of the capital femoral epiphysis


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