Hypertelorism, and Diabetes mellitus

Diseases related with Hypertelorism and Diabetes mellitus

In the following list you will find some of the most common rare diseases related to Hypertelorism and 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

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

Other less relevant matches:

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

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

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

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

Medium 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

Top 5 symptoms//phenotypes associated to Hypertelorism and Diabetes mellitus

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Type II diabetes mellitus Uncommon - Between 30% and 50% cases
Mandibular prognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Global developmental delay Low-set ears Small for gestational age Intrauterine growth retardation Short nose Anteverted nares Brachydactyly Severe short stature Abnormal facial shape Seizures Cryptorchidism

Rare Symptoms - Less than 30% cases

Acidosis Hypoglycemia Downturned corners of mouth Coma Nail dysplasia Osteoporosis Short metatarsal Ketoacidosis Cone-shaped epiphysis Generalized hypotonia Macrocephaly Atrial septal defect Hernia Acanthosis nigricans Umbilical hernia Osteopenia Generalized hirsutism Insulin resistance Long philtrum Hypertrichosis Epidermal acanthosis Hirsutism Gingival overgrowth Hyperinsulinemia Carious teeth Accelerated skeletal maturation Macrotia Hyperkeratosis Obesity Abnormality of the dentition Vomiting Wide mouth Postnatal growth retardation Round face Microcephaly Lethargy Short metacarpal Severe intrauterine growth retardation Intellectual disability, mild Ventricular septal defect Abnormal heart morphology Cholestasis Type I diabetes mellitus Hepatic fibrosis Abnormal cardiac septum morphology Postaxial polydactyly Severe failure to thrive Maternal diabetes Midface retrusion Glucose intolerance Hyperglycemia Dehydration Overgrowth Macroglossia Failure to thrive Small hand Abnormality of metabolism/homeostasis Developmental regression Deeply set eye Retrognathia Sparse hair Pancreatic dysplasia Ureteral atresia Multiple glomerular cysts Prominent forehead Microtia Glutaric acidemia Pancreatic fibrosis Potter facies Severe global developmental delay Dolichocephaly High forehead Clinodactyly Posteriorly rotated ears Mild short stature Hypoplasia of the maxilla Joint stiffness Underdeveloped nasal alae Short distal phalanx of finger Skeletal dysplasia Eczema Hypothyroidism Osteoarthritis Short phalanx of finger Increased intracranial pressure Autism Hyperactivity Clinodactyly of the 5th finger Congenital hypothyroidism Delayed speech and language development Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Hypospadias Blue irides Malar flattening Fair hair Abnormality of the skeletal system Red hair Chronic rhinitis Epicanthus Hypertension Asthma Long face Disproportionate short stature Triangular face Long foot Thick lower lip vermilion Gynecomastia Cutis laxa Cachexia Precocious puberty Clitoral hypertrophy Large hands Decreased muscle mass Hypermelanotic macule Reduced subcutaneous adipose tissue Lipoatrophy Hearing abnormality Thickened nuchal skin fold Concave nasal ridge High, narrow palate Small face Ovarian cyst Fasting hypoglycemia Long penis Thick nasal alae Abnormality of the abdominal wall Pancreatic islet-cell hyperplasia Absence of subcutaneous fat Female pseudohermaphroditism Postprandial hyperglycemia Elfin facies Adipose tissue loss Prominent nipples Abdominal distention Thick vermilion border Broad nasal tip Low hanging columella Prominent nose Waddling gait Small nail Dental crowding Pointed chin Azoospermia Widely spaced teeth Relative macrocephaly High pitched voice Short femoral neck Agenesis of permanent teeth Short finger Hepatic cysts Oligospermia Feeding difficulties in infancy Hypoplastic pelvis Breast hypoplasia Clitoral hypoplasia Frontal balding Hypoplastic sacrum Cognitive impairment Skeletal muscle atrophy Dysphagia Recurrent infections Inguinal hernia Delayed skeletal maturation Recurrent respiratory infections Proptosis Low-set, posteriorly rotated ears Portal fibrosis Flexion contracture Pancreatic cysts Blepharophimosis Loss of consciousness Pathologic fracture Adrenal hypoplasia Episodic vomiting Congenital adrenal hypoplasia Adrenocortical hypoplasia Increased urinary glycerol Hyperglycerolemia Scoliosis Hydrocephalus Polyhydramnios Coarse facial features Thick eyebrow Hyperlipidemia Premature birth Tall stature Narrow palpebral fissure Deep philtrum Long palpebral fissure Short columella Everted upper lip vermilion Premature rupture of membranes Delayed puberty Muscle cramps Narrow forehead Subcutaneous nodule Polycystic ovaries Adrenal insufficiency Hypertriglyceridemia Generalized hyperpigmentation Nasal speech Talipes equinovarus Premature atrial contractions Transient neonatal diabetes mellitus Hypoinsulinemia Cleft palate Abnormality of cardiovascular system morphology Narrow mouth Bifid uvula Tetralogy of Fallot Coarctation of aorta Short palpebral fissure Hypocalcemia Broad hallux Metabolic acidosis Transposition of the great arteries Submucous cleft hard palate Hypoparathyroidism Double outlet right ventricle Truncus arteriosus Pulmonary artery atresia Complete atrioventricular canal defect Aortopulmonary window Anomalous origin of one pulmonary artery from ascending aorta Strabismus Frontal bossing Myopathy Muscular dystrophy Increased number of teeth Insulin-resistant diabetes mellitus Short sternum Renal cyst Short neck Respiratory insufficiency Renal insufficiency Patent ductus arteriosus Polydactyly Jaundice Abnormality of the kidney Stage 5 chronic kidney disease Cirrhosis Hepatic failure Polymicrogyria Pulmonary hypoplasia Intestinal malrotation Germinoma Dandy-Walker malformation Oligohydramnios Renal dysplasia Aortic valve stenosis Situs inversus totalis Spontaneous abortion Polycystic kidney dysplasia Preauricular pit Enlarged kidney Polysplenia Asplenia Biliary cirrhosis Bile duct proliferation Hepatomegaly Abnormality of the anterior pituitary Growth hormone excess Vertigo Prolactin excess Macroorchidism Menstrual irregularities Generalized hypertrichosis Neoplasm Fever Fatigue Constipation Weight loss Irritability Autoimmunity Dry skin Confusion Wide nose Hypertonic dehydration Gliosis Syncope Growth hormone deficiency Hypotension Polydipsia Polyuria Diabetes insipidus Orthostatic hypotension Enuresis Histiocytosis Central diabetes insipidus Pollakisuria Nocturia Asymmetry of the breasts


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