Micrognathia, and Heterotopia

Diseases related with Micrognathia and Heterotopia

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

Top matches:

Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group K (CGK) have mutations in the PEX14 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Micrognathia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER); PBD13A

Microcephaly-2 with or without cortical malformations is an autosomal recessive neurodevelopmental disorder showing phenotypic variability. Classically, primary microcephaly is a clinical diagnosis made when an individual has a head circumference more than 3 standard deviations (SD) below the age- and sex-matched population mean, and mental retardation with no other associated malformations and with no apparent etiology (Hofman, 1984). Patients with WDR62 mutations have head circumferences ranging from low-normal to severe (-9.8 SD), and most patients with brain scans have shown various types of cortical malformations. All have delayed psychomotor development; seizures are variable (summary by Yu et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2

Periventricular nodular heterotopia-7 is a neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability; some patients may develop seizures. Other features include cleft palate and 2-3 toe syndactyly (summary by Broix et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of periventricular heterotopia, see {300049}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7

Other less relevant matches:

Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.

AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph|premature chromosome condensation with microcephaly and mental retardation|pcc syndrome|true microcephaly|premature chromosome condensation syndrome|microcephalia vera|microcephaly vera

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q TERMINAL DELETION SYNDROME

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

ALKKUCS is an autosomal recessive severe neurodevelopmental disorder characterized by arthrogryposis, brain abnormalities associated with cerebral parenchymal underdevelopment, and global developmental delay. Most affected individuals die in utero or soon after birth. Additional abnormalities may include hypotonia, dysmorphic facial features, and involvement of other organ systems, such as cardiac or renal. The few patients who survive have variable intellectual disability and may have seizures (summary by Gueneau et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALKURAYA-KUCINSKAS SYNDROME; ALKKUCS

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

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.

16Q24.3 MICRODELETION SYNDROME Is also known as monosomy 16q24.3|del(16)(q24.3)

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 16Q24.3 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Heterotopia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hypoplasia of the corpus callosum Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Generalized hypotonia Macrocephaly Cerebellar hypoplasia Polymicrogyria Dandy-Walker malformation Absent speech Ventriculomegaly Delayed speech and language development Hydrocephalus Hearing impairment Periventricular gray matter heterotopia Highly arched eyebrow Intellectual disability, moderate Lissencephaly Upslanted palpebral fissure Colpocephaly Microcephaly Low-set ears Anteverted nares Abnormality of neuronal migration

Rare Symptoms - Less than 30% cases

Cleft lip Clinodactyly Hypospadias Abnormality of the foot Nystagmus Apraxia Scoliosis Oculomotor apraxia Hypermetropia Agenesis of corpus callosum Polydactyly Ptosis Ventricular septal defect Hypoplasia of the brainstem Short nose Prominent forehead Abnormality of eye movement Long face Polyhydramnios Thick vermilion border Postaxial hand polydactyly Encephalocele Plagiocephaly Talipes equinovarus High palate Frontal bossing Severe hydrocephalus Abnormal cortical gyration Myopia Pulmonary hypoplasia Coloboma Posteriorly rotated ears Optic atrophy Hypertelorism Flexion contracture Aggressive behavior Triangular face Cholestasis Sloping forehead Dolichocephaly Abnormality of the eye Muscular hypotonia of the trunk Long philtrum Cortical gyral simplification Pachygyria High forehead Growth delay Wide nasal bridge Intellectual disability, severe Cryptorchidism Intrauterine growth retardation Feeding difficulties Hyperreflexia Cleft palate Hyperactivity Mitral regurgitation Tracheal stenosis Hip dysplasia Preaxial foot polydactyly Complete atrioventricular canal defect Smooth philtrum Bifid nose Abnormal vagina morphology Arrhinencephaly Astigmatism Bilateral cleft lip and palate Dilated cardiomyopathy Wide mouth Accessory spleen Laryngeal hypoplasia Preauricular skin tag Pointed chin Bilateral cleft lip Omphalocele Hand clenching Kinked brainstem Increased mean corpuscular volume Microphthalmia Hydronephrosis Abnormal hair pattern Abnormality of the pinna Oral cleft Biparietal narrowing Postaxial polydactyly Premature birth Holoprosencephaly Broad neck Preaxial polydactyly Proximal placement of thumb Preaxial hand polydactyly Chronic otitis media Absent septum pellucidum Optic nerve hypoplasia Anencephaly Bifid uterus Abnormal lung lobation Median cleft lip Upper limb undergrowth Duplication of phalanx of hallux Ataxia Agenesis of the diaphragm Abnormal saccadic eye movements Molar tooth sign on MRI Occipital encephalocele Protruding tongue Self-mutilation Retinal dysplasia Impaired smooth pursuit Optic nerve coloboma Central apnea Breathing dysregulation Agenesis of cerebellar vermis Abnormal pattern of respiration Meningoencephalocele Dysphagia Abnormality of ocular smooth pursuit Visual impairment Triangular-shaped open mouth Occipital myelomeningocele Elongated superior cerebellar peduncle Episodic tachypnea Dysgenesis of the cerebellar vermis Brainstem dysplasia Neonatal breathing dysregulation Enlarged fossa interpeduncularis Hemifacial spasm Chorioretinal coloboma Overlapping fingers Adrenal gland dysgenesis Abnormality of skin pigmentation Cleft in skull base Proximal tibial hypoplasia Muscular hypotonia Cognitive impairment Epicanthus Tremor Mandibular prognathia Telecanthus Abnormality of the kidney Apnea Prominent nasal bridge Autistic behavior Kyphosis Retinal dystrophy Downturned corners of mouth Renal cyst Macroglossia Narrow forehead Protruding ear Autism Thrombocytopenia Cerebellar vermis hypoplasia Open mouth Hepatic fibrosis Tachypnea Cerebellar dysplasia Intestinal malrotation Cystic hygroma Unilateral renal agenesis 2-3 toe syndactyly Cortical dysplasia Short stature Hypogonadism Thin upper lip vermilion Craniosynostosis Tetraplegia Vesicoureteral reflux Spastic tetraplegia Hypergonadotropic hypogonadism Chromosome breakage Toe syndactyly Mild microcephaly Abnormal cortical bone morphology Bird-like facies Hypoplasia of the frontal lobes Small cerebral cortex Increased rate of premature chromosome condensation Failure to thrive Short neck Intellectual disability, mild Obesity Hyperkeratosis Bifid uvula Deeply set eye Joint laxity Delayed closure of the anterior fontanelle Hepatomegaly Jaundice Abnormality of the nervous system Aciduria Cyanosis Large fontanelles Hyperbilirubinemia Flat occiput Central hypotonia Posterior embryotoxon Dicarboxylic aciduria Syndactyly Neonatal hyperbilirubinemia Abnormality of the nasal bridge Decreased fetal movement Thick lower lip vermilion Tetraparesis Hemiparesis Spastic tetraparesis Impulsivity Maternal diabetes Abnormal corpus callosum morphology Schizencephaly Gait ataxia Low-set, posteriorly rotated ears Pericardial effusion Behavioral abnormality Congenital diaphragmatic hernia Wide anterior fontanel Microretrognathia Relative macrocephaly Communicating hydrocephalus Macular hypoplasia Cataract Depressed nasal bridge Respiratory distress Edema Micropenis Iris coloboma Retrognathia Camptodactyly Arthrogryposis multiplex congenita Webbed neck Hypotelorism Cutaneous syndactyly Aplasia/Hypoplasia of the corpus callosum Scrotal hypoplasia Adducted thumb Pleural effusion Overlapping toe Microdontia Bulbous nose Abnormality of the cerebral white matter Broad philtrum Dysmetria High, narrow palate Wide intermamillary distance Hypsarrhythmia Short palpebral fissure Gynecomastia Low anterior hairline Infantile muscular hypotonia Hallux valgus Prominent metopic ridge Talipes calcaneovalgus Hepatic failure Phimosis Aplasia/Hypoplasia of the ribs Abnormality of the cerebral cortex Sensorineural hearing impairment Motor delay Downslanted palpebral fissures Atrial septal defect Hernia Abnormal cardiac septum morphology Facial asymmetry Joint hypermobility Single median maxillary incisor


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