Micrognathia, and Neurological speech impairment

Diseases related with Micrognathia and Neurological speech impairment

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 61; MRX61


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 61; MRX61

Low match OROFACIODIGITAL SYNDROME TYPE 14


Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

OROFACIODIGITAL SYNDROME TYPE 14 Is also known as oral-facial-digital syndrome type 14|ofd14|microcephaly-cerebral malformation-orofaciodigital syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cleft palate
  • Hypoplasia of the corpus callosum


SOURCES: OMIM ORPHANET MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 14

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64


Early infantile epileptic encephalopathy-64 is a neurodevelopmental disorder characterized by onset of seizures usually in the first year of life and associated with intellectual disability, poor motor development, and poor or absent speech. Additional features include hypotonia, abnormal movements, and nonspecific dysmorphic features. The severity is variable: some patients are unable to speak, walk, or interact with others as late as the teenage years, whereas others may have some comprehension (summary by Straub et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64; EIEE64

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Other less relevant matches:

Low match MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS; MCPH2


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

Low match FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3


HCFP3 is an autosomal recessive congenital cranial dysinnervation disorder characterized by isolated dysfunction of the seventh cranial nerve resulting in facial palsy. Additional features may include orofacial anomalies, such as smooth philtrum, lagophthalmos, swallowing difficulties, and dysarthria, as well as hearing loss. There is some phenotypic overlap with Moebius syndrome (see, e.g., {157900}), but patients with HCFP usually retain full eye motility or have esotropia without paralysis of the sixth cranial nerve (summary by Vogel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of hereditary congenital facial paresis, see {601471}.

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FACIAL PARESIS, HEREDITARY CONGENITAL, 3; HCFP3

Low match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Low match MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B


Fast-channel congenital myasthenic syndrome (FCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor (AChR) channel, specifically from abnormally brief opening and activity of the channel, with a rapid decay in endplate current and a failure to reach the threshold for depolarization. Treatment with pyridostigmine or amifampridine may be helpful; quinine, quinidine, and fluoxetine should be avoided (summary by Sine et al., 2003 and Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL; CMS1B

Low match PERIVENTRICULAR NODULAR HETEROTOPIA 7; PVNH7


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

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Low match CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD


CLIFAHDD is a congenital disorder characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay. All reported cases have occurred de novo (summary by Chong et al., 2015).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY; CLIFAHDD

Top 5 symptoms//phenotypes associated to Micrognathia and Neurological speech impairment

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Micrognathia and Neurological speech impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hypoplasia of the corpus callosum Cerebellar hypoplasia Delayed speech and language development High palate Epicanthus Scoliosis Feeding difficulties Wide nasal bridge

Rare Symptoms - Less than 30% cases


Hemiparesis Facial diplegia Hearing impairment Strabismus Macrotia Developmental regression Smooth philtrum Facial palsy Short nose Dysphagia Polymicrogyria Growth delay Heterotopia Dysarthria Intrauterine growth retardation Long philtrum Hypertonia Aggressive behavior Ptosis Thick lower lip vermilion Sloping forehead Hyperactivity Cortical gyral simplification Gastroesophageal reflux Prominent nose Depressed nasal bridge Hypertelorism Cryptorchidism Short stature Spasticity Behavioral abnormality Intellectual disability, severe Poor speech Flexion contracture Cleft palate Easy fatigability Respiratory insufficiency due to muscle weakness Progressive muscle weakness Gait disturbance Gowers sign Constipation Gait ataxia Poor suck Weak cry Ophthalmoparesis Abnormality of neuronal migration Syndactyly Toe syndactyly Optic atrophy Bifid uvula Myopia 2-3 toe syndactyly Cortical dysplasia Bulbar palsy Ataxia Decreased miniature endplate potentials Failure to thrive Type 2 muscle fiber atrophy Neck muscle weakness Muscular hypotonia of the trunk Deeply set eye Short philtrum Autism Full cheeks Cerebellar atrophy Cerebral atrophy Hernia Inguinal hernia Umbilical hernia Camptodactyly Abnormality of the foot Elbow flexion contracture Respiratory insufficiency Knee flexion contracture Adducted thumb Congenital contracture Neonatal respiratory distress Hip contracture Short columella Breathing dysregulation Pursed lips Respiratory distress Short neck Pes planus Thick vermilion border Anxiety Joint laxity Hyperlordosis Autistic behavior Wide mouth Attention deficit hyperactivity disorder Arthrogryposis multiplex congenita Pectus carinatum Abnormal cerebellum morphology Talipes equinovarus Underdeveloped nasal alae Hypotelorism Short palpebral fissure Postnatal microcephaly Stereotypy Self-injurious behavior Obsessive-compulsive behavior Downslanted palpebral fissures Generalized muscle weakness Esotropia Neonatal hypotonia Inability to walk Ventriculomegaly Dystonia Encephalopathy Cerebral cortical atrophy Thin upper lip vermilion Generalized tonic-clonic seizures Chorea Aplasia of the epiglottis Delayed myelination Focal-onset seizure Febrile seizures Epileptic encephalopathy Status epilepticus Limb hypertonia Cognitive impairment Hamartoma of tongue Intellectual disability, moderate Retinopathy Broad forehead Fine hair Upslanted palpebral fissure Polydactyly Micropenis Telecanthus Postaxial polydactyly Lobulated tongue Microretrognathia Trigonocephaly Molar tooth sign on MRI Hamartoma Increased number of teeth Bifid tongue Hyperreflexia Decreased fetal movement Motor delay Small hand Accommodative esotropia Cardiomyopathy Pneumonia Agenesis of corpus callosum Severe short stature Craniosynostosis Short foot High-frequency hearing impairment Round face Mild short stature Partial agenesis of the corpus callosum Restrictive cardiomyopathy Metaphyseal sclerosis Muscle weakness Esophoria Facial paralysis Tetraparesis Schizencephaly Pachygyria Spastic tetraparesis Lissencephaly Impulsivity Maternal diabetes Abnormal corpus callosum morphology Sensorineural hearing impairment High hypermetropia Low-set ears Anteverted nares Midface retrusion Posteriorly rotated ears Paralysis Hypermetropia Downturned corners of mouth Enlarged naris



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Single transverse palmar crease, related diseases and genetic alterations Ventricular septal defect and Ambiguous genitalia, related diseases and genetic alterations Spasticity and Fever, related diseases and genetic alterations Peripheral neuropathy and Short neck, related diseases and genetic alterations

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