Micrognathia, and Intellectual disability, mild

Diseases related with Micrognathia and Intellectual disability, mild

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

Top matches:

SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).

AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME Is also known as slc35a3-cdg

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTISM SPECTRUM DISORDER-EPILEPSY-ARTHROGRYPOSIS SYNDROME

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).

1P21.3 MICRODELETION SYNDROME Is also known as monosomy 1p21.3|del(1)p(21.3)

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Micrognathia
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about 1P21.3 MICRODELETION SYNDROME

Acromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome (see these terms).

ACROMEGALOID FACIAL APPEARANCE SYNDROME Is also known as afa syndrome|thick lips and oral mucosa

Related symptoms:

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALOID FACIAL APPEARANCE SYNDROME

Other less relevant matches:

MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE Is also known as x-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DOMINANT CHONDRODYSPLASIA, CHASSAING-LACOMBE TYPE

High match PGM1-CDG

Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

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

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY Is also known as igf1 deficiency|primary insulin-like growth factor deficiency|growth retardation with sensorineural deafness and mental retardation|growth delay-deafness- intellectual disability syndrome|igf-1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR TYPE 1 DEFICIENCY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 5; CWS5

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about COWDEN SYNDROME 6; CWS6

Top 5 symptoms//phenotypes associated to Micrognathia and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Myopia Scoliosis Microcephaly Hearing impairment Hypothyroidism Upslanted palpebral fissure Behavioral abnormality Macrocephaly Intrauterine growth retardation Prominent forehead

Rare Symptoms - Less than 30% cases

Fibroadenoma of the breast Cataract Hypertelorism Intention tremor Abnormality of the cardiovascular system Hypoplasia of the maxilla Narrow mouth Pectus excavatum Kyphosis High palate Autistic behavior Breast carcinoma Clinodactyly Delayed skeletal maturation Cerebellar hypoplasia Bilateral sensorineural hearing impairment Hyperactivity Sensorineural hearing impairment Generalized hypotonia Hypogonadism Hypoglycemia Gynecomastia Clinodactyly of the 5th finger Palmoplantar hyperkeratosis Transitional cell carcinoma of the bladder Subcutaneous lipoma Angioid streaks of the fundus Goiter Thyroid adenoma Varicocele Short nose Hamartomatous polyposis Colonic diverticula Progressive macrocephaly Ovarian cyst Hydrocele testis Hashimoto thyroiditis Wide mouth Skin tags Aggressive behavior Meningioma Furrowed tongue Thyroiditis Hyperthyroidism Constipation Midface retrusion Long philtrum Short neck Tremor Reduced visual acuity Wide nasal bridge Depressed nasal bridge Neonatal hypotonia Strabismus Nystagmus Abnormality of the coagulation cascade Abnormal protein glycosylation Chronic hepatitis Malignant hyperthermia Pierre-Robin sequence Hyperinsulinemic hypoglycemia Small face Type I transferrin isoform profile Exercise intolerance Decreased serum insulin-like growth factor 1 Rhabdomyolysis Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Feeding difficulties in infancy Failure to thrive Unsteady gait Abnormality of the mouth Cafe-au-lait spot Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Truncal obesity Severe intrauterine growth retardation Severe postnatal growth retardation Decreased body weight Short attention span Concave nasal ridge Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Insulin resistance Low posterior hairline Intellectual disability, profound Abnormality of metabolism/homeostasis Open mouth Pachygyria Relative macrocephaly Frontal upsweep of hair Ptosis Motor delay Severe short stature Delayed eruption of teeth Osteoporosis Osteopenia Postnatal growth retardation Attention deficit hyperactivity disorder Small for gestational age Single transverse palmar crease Cardiac arrest Hypogonadotrophic hypogonadism Microretrognathia Hepatitis Abnormality of the metacarpal bones Thick eyebrow Everted lower lip vermilion Highly arched eyebrow Tapered finger Macroglossia Sloping forehead Thick lower lip vermilion Thickened skin Gingival overgrowth Large hands Joint hyperflexibility Long nose Palpebral edema Craniofacial hyperostosis Abnormality of the tongue Thick nasal alae Abnormal lip morphology Intellectual disability, moderate Autism Brachydactyly Intellectual disability, severe Bulbous nose Synophrys Convex nasal ridge Deeply set eye Knee dislocation Atypical absence seizures Absence seizures Delayed speech and language development Hip dysplasia Arthrogryposis multiplex congenita Hip dislocation Obesity Camptodactyly of finger Astigmatism Blepharophimosis Joint hypermobility Broad nasal tip Full cheeks Abnormality of vision Self-injurious behavior Self-mutilation Long ear Shyness Abnormal eating behavior Coarse facial features Short metacarpal Abnormality of the ribs Chest pain Flexion contracture Abnormality of the calcaneus Metaphyseal cupping of proximal phalanges Hypoplasia of the calcaneus Muscle weakness Cleft palate Fever Fatigue Cardiomyopathy Elevated serum creatine phosphokinase Muscular hypotonia Metaphyseal cupping of metacarpals Dyspnea Elevated hepatic transaminase Cleft lip Abnormality of the liver Dilated cardiomyopathy Hammertoe Tachycardia Hepatic steatosis Muscle cramps Bifid uvula Distal shortening of limbs Severe platyspondyly Finger clinodactyly Microphthalmia Hypoplasia of the radius Radioulnar synostosis Mesomelia Cortical gyral simplification Dislocated radial head Patellar aplasia Low-set ears Frontal bossing Abnormality of the skeletal system Hydrocephalus Hyperkeratosis Metaphyseal chondrodysplasia Short philtrum Platyspondyly Short palm Short foot Depressed nasal ridge Rhizomelia Thin ribs Hypoplastic iliac wing Decreased skull ossification 11 pairs of ribs Delayed puberty


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