Hypertelorism, and Obesity

Diseases related with Hypertelorism and Obesity

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 49; MRD49

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15; MRT15

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF COFFIN-LOWRY SYNDROME IN FEMALE CARRIERS

Other less relevant matches:

Intellectual disability-severe speech delay-mild dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder, with highly variable phenotype, typically characterized by mild to severe global development delay, severe speech and language impairment, mild to severe intellectual disability, dysphagia, hypotonia, relative to true macrocephaly, and behavioral problems that may include autistic features, hyperactivity, and mood lability. Facial gestalt typically features a broad, prominent forehead, hypertelorism, downslanting palpebral fissures, ptosis, a short bulbous nose with broad tip, thick vermilion border, wide, and open mouth with downturned corners. Brain, cardiac, urogenital and ocular malformations may be associated.

INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME Is also known as foxp1 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-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

Deletion 6q16 syndrome is a Prader-Willi like syndrome characterized by obesity, hyperphagia, hypotonia, small hands and feet, eye/vision anomalies, and global developmental delay.

6Q16 DELETION SYNDROME Is also known as del(6)(q16)|prader-willi-like syndrome due to deletion 6q16|monosomy 6q16

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about 6Q16 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hypertelorism and Obesity

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Frontal bossing Aggressive behavior Tapered finger Autism Downslanted palpebral fissures Muscular hypotonia Strabismus Generalized hypotonia Downturned corners of mouth Wide nasal bridge Hyperactivity Brachycephaly Abnormal facial shape Epicanthus Round face Short nose

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Abnormality of cardiovascular system morphology Pectus excavatum Pectus carinatum Nystagmus Horizontal eyebrow Depressed nasal bridge Macrotia Broad forehead Hypoplasia of the corpus callosum Autistic behavior Narrow forehead Clinodactyly of the 5th finger Synophrys Motor delay Short neck Intellectual disability, severe High palate Low-set ears Clinodactyly Truncal obesity Wide nose Malar flattening Long philtrum Short philtrum Smooth philtrum Pointed chin Thin upper lip vermilion Polyphagia Overweight Intellectual disability, moderate Short stature Generalized myoclonic seizures Congenital hypothyroidism Cerebral cortical atrophy Cerebellar hypoplasia Short palm Enlarged joints Multiple epiphyseal dysplasia Underdeveloped supraorbital ridges Short foot Abnormality of the pinna Macroorchidism Full cheeks Brain atrophy Inguinal hernia Agenesis of corpus callosum Polyhydramnios Finger syndactyly Hip dislocation Genu valgum Osteoarthritis Microretrognathia Abnormality of epiphysis morphology Narrow nose Lymphedema Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Congenital stationary night blindness Malignant hyperthermia Brachydactyly Abnormality of brain morphology Increased number of teeth Accelerated skeletal maturation EEG abnormality Acanthosis nigricans Myopia Polycystic ovaries Hyperinsulinemia Generalized hyperpigmentation Prominent nasal bridge Insulin-resistant diabetes mellitus Growth hormone excess Ketoacidosis Generalized hypertrichosis Prolactin excess Menstrual irregularities Generalized hirsutism Subcutaneous nodule Large fleshy ears Carious teeth Multifocal cerebral white matter abnormalities Abnormality of the dentition Intellectual disability, mild Diabetes mellitus Hyperkeratosis Mandibular prognathia Delayed puberty Hypertrichosis Hirsutism Muscle cramps Macroglossia Type II diabetes mellitus Epidermal acanthosis Bulbous nose Insulin resistance Increased head circumference Abnormality of the cerebellar vermis Anxiety Bipolar affective disorder Anodontia Failure to thrive Behavioral abnormality Prominent forehead Retrognathia Irritability Oligodontia Poor speech Broad nasal tip Delayed myelination Apraxia Open mouth Stereotypy Large hands Psychosis Delayed gross motor development Long face Absent speech Upslanted palpebral fissure Wide mouth Narrow palpebral fissure Sandal gap Dolichocephaly Prominent nose Everted lower lip vermilion Short chin Broad eyebrow Long eyebrows Scoliosis Kyphosis Depressivity Drooling Relative macrocephaly Unilateral cleft lip Hypotelorism Neonatal hypotonia Cleft lip Developmental regression Abnormality of the cerebral white matter Cleft upper lip Febrile seizures Postnatal microcephaly Postnatal macrocephaly Progressive microcephaly Low anterior hairline Severe muscular hypotonia Slender finger Mild microcephaly Bruxism Growth delay Severe combined immunodeficiency Language impairment Recurrent infections Delayed ability to walk Large forehead Speech apraxia Neoplasm Fever Immunodeficiency Midface retrusion Biparietal narrowing Pneumonia Hepatosplenomegaly Lymphadenopathy Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Misalignment of teeth


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