Micrognathia, and Hypoglycemia

Diseases related with Micrognathia and Hypoglycemia

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

Top matches:

Medium match LARON SYNDROME

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Medium 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

Other less relevant matches:

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

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

Low match MEHMO SYNDROME

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.

MEHMO SYNDROME Is also known as mental retardation, x-linked, syndromic 25|mental retardation, x-linked, syndromic, borck type|x-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome|mrxs25|mrxsbrk|mrxs20|mental retardation, x-linked, syndromic 2

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEHMO SYNDROME

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE Is also known as mendenhall syndrome|rabson-mendenhall syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULOCEREBROFACIAL SYNDROME, KAUFMAN TYPE

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Hypoglycemia

Symptoms // Phenotype % cases
Abnormal facial shape Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Delayed puberty Seizures Hypogonadism Small for gestational age Microcephaly Hearing impairment Failure to thrive Intrauterine growth retardation Delayed skeletal maturation Motor delay Microdontia Cleft palate Severe short stature Delayed eruption of teeth Respiratory distress Intellectual disability, mild Generalized hypotonia Hypoplasia of penis Strabismus Prominent forehead Blue sclerae Nystagmus Myopia Truncal obesity High pitched voice Hyperactivity Babinski sign Intellectual disability, severe Muscle weakness

Rare Symptoms - Less than 30% cases

Dysmetria Sensorineural hearing impairment High palate Malignant hyperthermia Feeding difficulties Broad nasal tip Muscular hypotonia High, narrow palate Kyphoscoliosis Retrognathia Short philtrum Talipes equinovarus Osteoporosis Long face Microcornea Abnormality of the dentition Epicanthus Neoplasm External genital hypoplasia Hyperglycemia Ketoacidosis Growth hormone deficiency Round face Full cheeks Downturned corners of mouth Macrotia Tremor Gait ataxia Diabetes mellitus Obesity Cognitive impairment Hypoplasia of the corpus callosum Ventriculomegaly Hypogonadotrophic hypogonadism Spasticity Cryptorchidism Concave nasal ridge Insulin resistance Attention deficit hyperactivity disorder Rhabdomyolysis Poor speech Abnormality of the elbow Prematurely aged appearance Myoglobinuria Cardiomyopathy Hypercholesterolemia Short toe Neonatal hypoglycemia Hypohidrosis Dyspnea Exercise intolerance Reduced number of teeth Myalgia Underdeveloped supraorbital ridges Cleft lip Osteoarthritis Depressed nasal ridge Hypothyroidism High forehead Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Fever Brachydactyly Chorioretinal dystrophy Muscle flaccidity Upper limb postural tremor Diabetic ketoacidosis Malar prominence Onychauxis Postprandial hyperglycemia Abnormality of upper lip Choroideremia Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Diarrhea Recurrent infections Abnormality of peripheral nerve conduction Decreased serum estradiol Motor axonal neuropathy Genu recurvatum Pneumonia Deeply set eye Abnormal lip morphology Paresthesia Thin eyebrow Precocious puberty Thin vermilion border Hirsutism Abdominal distention Sepsis Specific learning disability Epidermal acanthosis Short palpebral fissure Hypertrichosis Preauricular skin tag Narrow face Acanthosis nigricans Hyperinsulinemia Lipodystrophy Advanced eruption of teeth Clitoral hypertrophy Absent eyebrow Flat occiput Ovarian neoplasm Protuberant abdomen Insulin-resistant diabetes mellitus Long foot Abnormality of the optic nerve Eczema Thick nail Fasting hypoglycemia Acute rhabdomyolysis Long penis Progressive visual loss Increased body weight Axonal loss Polyneuropathy Arachnodactyly Brisk reflexes Down-sloping shoulders Maternal diabetes Intention tremor Interphalangeal joint contracture of finger Prominent superficial veins Amenorrhea Recurrent hypoglycemia Kinetic tremor Peripheral demyelination Decreased testicular size Increased vertebral height Chorea Scoliosis Hypoplasia of the brainstem Ataxia Cataract Peripheral neuropathy Abnormality of the skeletal system Kyphosis Microphthalmia Cerebral atrophy Pes cavus Cerebral cortical atrophy Proximal muscle weakness Camptodactyly of finger Abnormal pyramidal sign Sensory neuropathy Small hand Polyuria Primary amenorrhea Abnormal lung morphology Decreased motor nerve conduction velocity Chronic diarrhea Lymphopenia Congenital cataract Short long bone Keratitis Proportionate short stature Immune dysregulation Secondary amenorrhea Delayed menarche Lymphoid interstitial pneumonia Dysarthria Downslanted palpebral fissures Axonal degeneration Pectus excavatum Narrow mouth Polydipsia Hypotelorism Oligodontia Type I diabetes mellitus Truncal ataxia Abnormal vertebral morphology Fine hair Renal hypoplasia Delayed myelination Hyperlordosis Split hand Long eyelashes Hypergonadotropic hypogonadism CNS hypomyelination Postural tremor Sparse hair Dry skin Acidosis Smooth philtrum Dysphagia Small face Type I transferrin isoform profile Chronic hepatitis Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Flexion contracture Skeletal muscle atrophy Depressivity Pierre-Robin sequence Neonatal hypotonia Feeding difficulties in infancy Dolichocephaly Thick eyebrow Highly arched eyebrow Narrow forehead Sacral dimple Tented upper lip vermilion Dysphonia Spinal muscular atrophy Oral-pharyngeal dysphagia Broad eyebrow Tented philtrum Hyperinsulinemic hypoglycemia Abnormality of the coagulation cascade Ptosis Enlarged kidney Abnormality of the skull Abnormality of the endocrine system Hepatomegaly Myopathy Congestive heart failure Hypertrophic cardiomyopathy Ascites Macroglossia Hypotension Cyanosis Cardiomegaly Bradycardia Heart murmur Sinus bradycardia Cardiac arrest Pulmonary edema Biventricular hypertrophy Shortened PR interval Fatigue Elevated serum creatine phosphokinase Elevated hepatic transaminase Abnormality of the liver Dilated cardiomyopathy Tachycardia Hepatic steatosis Muscle cramps Bifid uvula Chest pain Hepatitis Submucous cleft soft palate Behavioral abnormality Blepharophimosis Agitation Lactic acidosis Inability to walk Thick vermilion border Tapered finger Sloping forehead Tetraparesis Open mouth Lower limb spasticity Progressive microcephaly Spastic tetraparesis Pancreatitis Widely spaced teeth Drooling Depressed nasal tip Muscular hypotonia of the trunk Large earlobe Male hypogonadism Abdominal obesity Birth length less than 3rd percentile Tall chin Optic atrophy Upslanted palpebral fissure Brachycephaly Respiratory failure Mandibular prognathia Coarse facial features Telecanthus Wide mouth Severe global developmental delay Aggressive behavior Abnormality of metabolism/homeostasis Abnormality of the mouth Clinodactyly Clinodactyly of the 5th finger Osteopenia Postnatal growth retardation Single transverse palmar crease Bilateral sensorineural hearing impairment Low posterior hairline Decreased body weight Cafe-au-lait spot Low anterior hairline Radial deviation of finger Congenital sensorineural hearing impairment Severe intrauterine growth retardation Severe postnatal growth retardation EEG abnormality Short attention span Neonatal hyperbilirubinemia Prelingual sensorineural hearing impairment Small placenta Congenital bilateral ptosis Delayed speech and language development Hyperreflexia Hypertonia Long philtrum Absent speech Hypospadias Micropenis Autism Difficulty walking Peripheral hypomyelination


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