Hypertelorism, and Type II diabetes mellitus

Diseases related with Hypertelorism and Type II diabetes mellitus

In the following list you will find some of the most common rare diseases related to Hypertelorism and Type II diabetes mellitus that can help you solving undiagnosed cases.

Top matches:

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

Other less relevant matches:

High match LEPRECHAUNISM

Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome; see these terms) characterized by intrauterine and mainly postnatal severe growth retardation.

LEPRECHAUNISM Is also known as donohue syndrome|leprechaunism

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LEPRECHAUNISM

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

High match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Francke et al. (1987) noted that there are 3 clinically distinct forms of glycerol kinase deficiency: infantile, juvenile, and adult. The infantile form is associated with severe developmental delay, and those with the adult form have no symptoms and are often detected fortuitously.The infantile form of GK deficiency, or the 'GK complex,' results from the Xp21 contiguous gene deletion syndrome (OMIM ) with congenital adrenal hypoplasia (OMIM ) and/or Duchenne muscular dystrophy (DMD ), whereas the juvenile and adult forms have isolated GK deficiency (Walker et al., 1996).

GLYCEROL KINASE DEFICIENCY; GKD Is also known as gk deficiency|hyperglycerolemia|gk1 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCEROL KINASE DEFICIENCY; GKD

Tatton-Brown-Rahman syndrome is characterized by tall stature, a distinctive facial appearance, and intellectual disability (Tatton-Brown et al., 2014).

TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME Is also known as dnmt3a-related overgrowth syndrome|tatton-brown-rahman overgrowth syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Type II diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Small for gestational age Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Type II diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Global developmental delay Mandibular prognathia Hypertrichosis Low-set ears Abnormal facial shape Macrocephaly Severe short stature Gingival overgrowth Abnormality of the dentition Generalized hypotonia Failure to thrive Cognitive impairment Macroglossia Ventriculomegaly Microcephaly Frontal bossing Dysarthria Seizures Hepatomegaly Motor delay Myopathy Muscular hypotonia Strabismus Depressivity Cachexia Acanthosis nigricans Overgrowth Generalized hirsutism Hernia Umbilical hernia Skeletal muscle atrophy Intellectual disability, mild Intrauterine growth retardation Epidermal acanthosis Delayed skeletal maturation Hirsutism Insulin resistance Delayed puberty Carious teeth Macrotia

Rare Symptoms - Less than 30% cases

Reduced tendon reflexes Congestive heart failure Pigmentary retinopathy Decreased antibody level in blood Hypogonadism Hepatosplenomegaly Broad forehead Episodic vomiting Cardiomyopathy Feeding difficulties Hearing impairment Abdominal distention Feeding difficulties in infancy Hypoglycemia Recurrent respiratory infections Inguinal hernia Recurrent infections Dysphagia Hypoparathyroidism Tall stature Scoliosis Cerebral atrophy Hallucinations Hip dysplasia Thick eyebrow Delusions Confusion Dysmetria Coma Adrenal insufficiency Neurological speech impairment Mental deterioration Anxiety Coarse facial features Gait ataxia Areflexia Kyphosis Ataxia Optic atrophy Nystagmus Sensorineural hearing impairment Muscle weakness Pain Psychosis Hyperreflexia Gait disturbance Cerebellar atrophy Osteoporosis Vomiting Cryptorchidism Lethargy Short neck Hydrocephalus Cataract Acidosis Maternal diabetes Dental crowding Anteverted nares Brachydactyly Midface retrusion Prominent forehead Osteopenia Severe intrauterine growth retardation Nail dysplasia Pointed chin Developmental regression Triangular face Downturned corners of mouth Postnatal growth retardation Dolichocephaly Wide mouth Severe failure to thrive Hyperglycemia Glucose intolerance Talipes equinovarus Widely spaced teeth Insulin-resistant diabetes mellitus Abnormal cardiac septum morphology Hyperkeratosis Muscle cramps Ventricular septal defect High pitched voice Ketoacidosis Hyperinsulinemia Pancreatitis Ischemic stroke Overlapping toe Hypopigmented skin patches Ragged-red muscle fibers Premature birth Mutism External ophthalmoplegia Hemiplegia/hemiparesis Round face Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Bundle branch block Hypogonadotrophic hypogonadism Aphasia EMG abnormality Truncal ataxia Cardiac arrest Schizophrenia Growth abnormality Goiter Hemiplegia Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Narrow palpebral fissure Ophthalmoparesis Focal segmental glomerulosclerosis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Hyperkinesis Abnormality of neuronal migration Deep philtrum Clonus Hypercalciuria Decreased nerve conduction velocity Long palpebral fissure Atrioventricular block Chronic kidney disease Mask-like facies Easy fatigability Short columella Prominent ear helix Cerebral visual impairment Stroke Ichthyosis Paresthesia Anal atresia Malabsorption Nausea and vomiting Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Everted upper lip vermilion Generalized tonic-clonic seizures Pruritus Dilated cardiomyopathy Attention deficit hyperactivity disorder Peripheral axonal neuropathy Nyctalopia Abnormality of the liver Erythema Protruding ear Abnormality of the pinna Apnea Hypertrophic cardiomyopathy Proteinuria Myalgia EEG abnormality Photophobia Jaundice Gastroesophageal reflux Vertigo Lactic acidosis Abnormality of retinal pigmentation Abnormality of the cardiovascular system Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hemiparesis Vestibular dysfunction Atrial fibrillation Ventricular hypertrophy Status epilepticus Pulmonary arterial hypertension Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Cerebral calcification Nausea Amenorrhea Specific learning disability Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Postural instability Polyneuropathy Nephropathy Polymicrogyria Blepharophimosis Increased urinary glycerol Dysphasia Motor polyneuropathy Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Abnormality of the renal tubule Psychotic episodes Hemianopia Short palpebral fissure Ileus Hypocalcemia Nasal speech Broad hallux Transposition of the great arteries Proximal tubulopathy Submucous cleft hard palate Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Double outlet right ventricle Tubulointerstitial abnormality Abnormality of the cerebellar vermis Speech apraxia Homonymous hemianopia Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Cleft palate Abnormality of cardiovascular system morphology Abnormality of metabolism/homeostasis Abnormal heart morphology Narrow mouth Postaxial polydactyly Episodic quadriplegia Bifid uvula Tetralogy of Fallot Abnormality of acid-base homeostasis Abnormal cochlea morphology Crohn's disease Coarctation of aorta Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Truncus arteriosus Left ventricular failure Hyperkalemia Congenital adrenal hypoplasia Metabolic acidosis Hypertriglyceridemia Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Hyperlipidemia Abnormality of immune system physiology Loss of consciousness Thyroiditis Pathologic fracture Adrenal hypoplasia Rhabdomyolysis Adrenocortical hypoplasia Anomalous origin of one pulmonary artery from ascending aorta Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Morphological abnormality of the inner ear Vertebral fusion Hyperglycerolemia Multiple lipomas Prolonged QT interval Atrial septal defect Visual field defect Polyhydramnios Muscular dystrophy Aortopulmonary window Seborrheic dermatitis Aortic dissection Pulmonary artery atresia Stroke-like episode Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Dyspnea Wolff-Parkinson-White syndrome Complete atrioventricular canal defect Increased CSF lactate Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Facial diplegia Drowsiness Cardiorespiratory arrest Transient ischemic attack Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Atopic dermatitis Cerebral ischemia Craniofacial hyperostosis Hypothyroidism Thick nasal alae Wide nasal bridge High palate Neoplasm Asymmetry of the breasts Prominent nipples Adipose tissue loss Elfin facies Postprandial hyperglycemia Female pseudohermaphroditism Absence of subcutaneous fat Pancreatic islet-cell hyperplasia Abnormality of the abdominal wall Long penis Edema Fasting hypoglycemia Ovarian cyst Small face Concave nasal ridge Long foot Thickened nuchal skin fold Hearing abnormality Lipoatrophy Reduced subcutaneous adipose tissue Hypermelanotic macule Decreased muscle mass Large hands Hypoplasia of the corpus callosum Abnormality of the nervous system Precocious puberty Slender long bone Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Scaphocephaly Pericarditis Pulmonary fibrosis Intellectual disability, moderate Nephroblastoma Premature ovarian insufficiency Increased body weight Cyanosis Growth hormone deficiency Nevus Ascites Hypodontia Cirrhosis Astigmatism Infertility Retinopathy Clitoral hypertrophy Cutis laxa Spasticity Macroorchidism Severe global developmental delay Microtia Sparse hair Deeply set eye Retrognathia High forehead Posteriorly rotated ears Clinodactyly Long philtrum Short nose Generalized hypertrichosis Menstrual irregularities Prolactin excess Short distal phalanx of finger Growth hormone excess Generalized hyperpigmentation Increased number of teeth Polycystic ovaries Accelerated skeletal maturation Subcutaneous nodule Narrow forehead Obesity Hypoinsulinemia Transient neonatal diabetes mellitus Premature atrial contractions Dehydration Long face Small hand Gynecomastia Oligospermia Hepatic fibrosis Cholestasis Thick lower lip vermilion High, narrow palate Thick vermilion border Low-set, posteriorly rotated ears Proptosis Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Hypoplastic pelvis Low hanging columella Broad nasal tip Disproportionate short stature Short finger Agenesis of permanent teeth Short femoral neck Cone-shaped epiphysis Short metatarsal Relative macrocephaly Azoospermia Small nail Waddling gait Prominent nose Short metacarpal Pericardial constriction Delayed speech and language development Autism Spondylolysis Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Abnormality of dental structure Antineutrophil antibody positivity Abnormality of joint mobility Abnormality of the ilium Hypoplastic inferior ilia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Oligosacchariduria Ptosis Synostosis of joints Cerebral dysmyelination Retinal thinning Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Abnormality of the rib cage Spinocerebellar tract disease in lower limbs Anemia Abnormality of the helix Encephalopathy Weight loss Cerebral cortical atrophy Abdominal pain Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Constipation Elevated serum creatine phosphokinase Hyporeflexia Arrhythmia Visual loss Headache Visual impairment Renal insufficiency Dystonia Hypertonia Diarrhea Blindness Respiratory distress Respiratory insufficiency Fatigue Tremor Fever Peripheral neuropathy Hypertension Spondylolisthesis Reduced ejection fraction Epicanthus Corneal opacity Otitis media Dental malocclusion Delayed myelination Gliosis Progressive cerebellar ataxia Neurodegeneration Highly arched eyebrow Retinal degeneration Genu valgum Abnormality of the foot Hypermetropia Abnormality of the cerebral white matter Pectus carinatum Optic disc pallor Respiratory tract infection Arthritis Skeletal dysplasia Kyphoscoliosis Babinski sign Immunodeficiency Malar flattening Splenomegaly Behavioral abnormality Intellectual disability, severe Abnormality of the skeletal system Myopia Peripheral demyelination Pancytopenia Hydrocele testis Open bite Dysostosis multiplex Impaired smooth pursuit Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Limb dystonia Bronchitis Thickened calvaria Abnormality of the sternum Femoral bowing Neurodevelopmental delay Bowel incontinence Bowing of the legs Depressed nasal ridge Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Narrow palate Low anterior hairline Spastic gait Limb ataxia Amblyopia Bowing of the long bones Progressive neurologic deterioration Premature rupture of membranes


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Hypodontia, related diseases and genetic alterations Congestive heart failure and Skeletal dysplasia, related diseases and genetic alterations Epicanthus and Autoimmunity, related diseases and genetic alterations Failure to thrive and Flat face, related diseases and genetic alterations Failure to thrive and Clinodactyly of the 5th finger, related diseases and genetic alterations