Micrognathia, and Constipation

Diseases related with Micrognathia and Constipation

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


Top matches:

Medium 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

Medium match FG SYNDROME 4; FGS4


FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

Medium match INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME


Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features|skraban-deardorff syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS


Okur-Chung neurodevelopmental syndrome is an autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. Additional features, including microcephaly, gastrointestinal problems, and low levels of immunoglobulins, may be observed in some patients (Okur et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME; OCNDS

Medium match EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME


PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

Medium match HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1


Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. Affected individuals show very poor, if any, normal cognitive development. Some patients are never learn to sit or walk independently (summary by Al-Sayed et al., 2013). Genetic Heterogeneity of Infantile Hypotonia with Psychomotor Retardation and Characteristic FaciesSee also IHPRF2 (OMIM ), caused by mutation in the UNC80 gene (OMIM ) on chromosome 2q34; and IHPRF3 (OMIM ), caused by mutation in the TBCK gene (OMIM ) on chromosome 4q24.

HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1 Is also known as ihprf

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1

Medium match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Medium match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A


Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

Medium match 2Q23.1 MICRODELETION SYNDROME


The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Medium match VISCERAL MYOPATHY; VSCM


Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

Top 5 symptoms//phenotypes associated to Micrognathia and Constipation

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Feeding difficulties

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Absent speech Ataxia Failure to thrive Abnormal facial shape Strabismus Fever Wide mouth Developmental regression Short stature Hyperactivity Behavioral abnormality Hypertelorism Spasticity Anteverted nares Hearing impairment Nystagmus Ptosis Neurodegeneration Encephalopathy Cerebellar atrophy Delayed speech and language development Optic atrophy Skeletal muscle atrophy Hyperreflexia Prominent forehead Pachygyria Thin upper lip vermilion Low-set ears Spastic tetraplegia Widely spaced teeth Gastroesophageal reflux Cryptorchidism High palate Vomiting Aggressive behavior Short nose Broad forehead

Rare Symptoms - Less than 30% cases


Aganglionic megacolon Highly arched eyebrow Poor speech Synophrys Clinodactyly Postnatal growth retardation Abnormal pyramidal sign Abdominal distention Dysphagia Low anterior hairline Abnormality of the cerebral white matter Infantile muscular hypotonia Intestinal obstruction Cortical gyral simplification Malnutrition Growth delay Pain Abdominal pain Diarrhea Weight loss Neuronal loss in central nervous system Myopathy Chronic constipation Prominent nasal bridge Thick eyebrow Gliosis Tetraplegia Cerebral cortical atrophy Flexion contracture Brachycephaly Muscular hypotonia of the trunk Severe muscular hypotonia Progressive neurologic deterioration Ventriculomegaly Self-injurious behavior Visual impairment Feeding difficulties in infancy Attention deficit hyperactivity disorder Pectus carinatum Neonatal hypotonia Upslanted palpebral fissure Muscular hypotonia Urinary retention Autistic behavior Peripheral neuropathy Frontal bossing Wide nasal bridge Depressed nasal bridge Sensorineural hearing impairment Postnatal microcephaly Stereotypy Unsteady gait Autism Epicanthus Joint laxity Motor delay Hypertonia Tetraparesis Coarse facial features Hypoplasia of the corpus callosum Open mouth Gait ataxia Keratoconjunctivitis sicca Keratitis Hip dysplasia Degeneration of the lateral corticospinal tracts Corpus callosum atrophy Epiphora Febrile seizures Morphological abnormality of the pyramidal tract Lewy bodies Gangrene Diabetes insipidus Abnormality of visual evoked potentials Focal-onset seizure Esotropia EEG abnormality Sleep disturbance EMG: chronic denervation signs Myopia Microtia Retrognathia Hypermetropia Clinodactyly of the 5th finger Facial asymmetry Astigmatism Bulbous nose Short palm Malar flattening Intellectual disability, severe Cerebellar gliosis Prominent nose Downturned corners of mouth Hypothalamic hypothyroidism Small hand Everted lower lip vermilion Short foot Autoamputation of digits Autoamputation Cerebellar cortical atrophy Spinal deformities Protruding ear Epileptic encephalopathy Hypertension Hypoplasia of penis Achalasia Overgrowth Interphalangeal joint contracture of finger Recurrent urinary tract infections Horseshoe kidney Pancreatitis External ophthalmoplegia Hypoalbuminemia Portal hypertension Anonychia Hydroureter Disproportionate tall stature Hyperparathyroidism Episodic abdominal pain Volvulus Round face Peritonitis Aplasia/Hypoplasia of the abdominal wall musculature Abdominal situs inversus Intestinal pseudo-obstruction Pollakisuria Microcolon Prune belly Megacystis Urethral obstruction Barrett esophagus Neuroma Gastrointestinal obstruction Hypoperistalsis Intestinal malrotation Vesicoureteral reflux Dental crowding Paroxysmal bursts of laughter Generalized hirsutism Finger clinodactyly Short chin Absence seizures Sandal gap Tented upper lip vermilion Focal impaired awareness seizure Language impairment Cupped ear Polyphagia Short attention span Macrodontia Hemifacial hypoplasia Abnormality of lower lip Arachnodactyly Cleft palate Decreased nerve conduction velocity Dilatation Abnormality of cardiovascular system morphology Pneumonia Polyhydramnios Umbilical hernia Hydronephrosis Low-set, posteriorly rotated ears Joint stiffness Abnormality of the liver Ophthalmoplegia Narrow chest Poor suck Hypogonadism Sensorimotor neuropathy Brachydactyly Otitis media Recurrent otitis media Broad-based gait Amblyopia Spastic gait Delayed ability to walk Thick upper lip vermilion Sparse lateral eyebrow Hyperplasia of the maxilla Happy demeanor Joint hypermobility Broad nasal tip Decreased antibody level in blood Atonic seizures IgA deficiency Protruding tongue IgG deficiency Muscle weakness Elevated serum creatine phosphokinase Arthrogryposis multiplex congenita Delayed myelination Hypsarrhythmia Fasciculations Full cheeks Abnormality of the skeletal system Sparse eyebrow Thick lower lip vermilion Gait disturbance Pes planus Anxiety Hyperlordosis Short philtrum Thick vermilion border Abnormal cerebellum morphology Underdeveloped nasal alae Hypotelorism Short palpebral fissure Obsessive-compulsive behavior Frontal upsweep of hair Macrocephaly Tremor Short neck Intellectual disability, mild Long philtrum Midface retrusion Cerebellar hypoplasia Reduced visual acuity Bilateral sensorineural hearing impairment Intellectual disability, profound Relative macrocephaly CNS hypomyelination Cortical dysplasia Choreoathetosis Dystonia Intestinal polyposis Enterocolitis Central hypoventilation Anteverted ears Total colonic aganglionosis Neoplasm of the thyroid gland Functional abnormality of the gastrointestinal tract Intestinal perforation Total intestinal aganglionosis Abnormality of enteric ganglion morphology Cerebral atrophy Heterochromia iridis Abnormality of metabolism/homeostasis Visual loss Areflexia Dementia Hypothyroidism Mental deterioration Paralysis Generalized muscle weakness Parkinsonism Generalized myoclonic seizures Abnormality of extrapyramidal motor function Neoplasm of the endocrine system Hypoventilation Atrophy/Degeneration affecting the brainstem Slender nose Facial hypotonia Diffuse cerebral atrophy Tongue fasciculations Edema Macrotia Severe global developmental delay Smooth philtrum Triangular face Spastic tetraparesis Decreased motor nerve conduction velocity Poor eye contact Neoplasm Long nose Lethargy Nausea and vomiting Sepsis Dental malocclusion Sloping forehead Long eyelashes Increased body weight Abnormal autonomic nervous system physiology Adducted thumb Failure to thrive in infancy Flat occiput Megaduodenum



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 Neonatal hypotonia, related diseases and genetic alterations Hepatomegaly and Low posterior hairline, related diseases and genetic alterations Hepatomegaly and Abdominal pain, related diseases and genetic alterations Edema and Aortic valve stenosis, related diseases and genetic alterations Cognitive impairment and Abnormality of eye movement, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more