Hypertelorism, and Hypothyroidism

Diseases related with Hypertelorism and Hypothyroidism

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

Top matches:

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Hypothyroidism
  • High forehead
  • Cleft lip


SOURCES: OMIM MENDELIAN

More info about BLEPHAROCHEILODONTIC SYNDROME 2; BCDS2

X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY Is also known as mrgh

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY

Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Other less relevant matches:

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

Joubert syndrome-26 is an autosomal recessive ciliopathy characterized by global developmental delay associated with cerebellar hypoplasia and variable additional abnormalities, including hypotonia and possibly pituitary abnormalities (summary by Sanders et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 26; JBTS26

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.

BLEPHARO-CHEILO-ODONTIC SYNDROME Is also known as lagophthalmia with bilateral cleft lip and palate|clefting, ectropion, and conical teeth|ectropion, inferior, with cleft lip and/or palate|lagophthalmia-cleft lip and palate syndrome|bcd syndrome|blepharocheilodontic syndrome|elschnig syndrome|bcds|elschi

Related symptoms:

  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape
  • Cleft palate
  • Blindness


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLEPHARO-CHEILO-ODONTIC SYNDROME

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

High match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Top 5 symptoms//phenotypes associated to Hypertelorism and Hypothyroidism

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Epicanthus Generalized hypotonia Intellectual disability, moderate Failure to thrive Flat face Cleft lip Wide nasal bridge Growth hormone deficiency Talipes equinovarus

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Cognitive impairment Depressed nasal bridge Telecanthus Anemia Motor delay Intellectual disability, severe Hepatomegaly Cleft palate Brachycephaly Thin upper lip vermilion Tachypnea Congenital hypothyroidism Micropenis Anteverted nares Hip dislocation Decreased fetal movement Ataxia Cerebellar hypoplasia Upslanted palpebral fissure Panhypopituitarism Reduced number of teeth Myelomeningocele Ectropion of lower eyelids Long philtrum Distichiasis Synophrys Conical tooth Cryptorchidism Ectropion Cataract Sensorineural hearing impairment Hearing impairment High forehead Anal atresia Euryblepharon Dental malocclusion Increased body weight Congenital hip dislocation Everted lower lip vermilion Omphalocele Hoarse voice Broad-based gait Wormian bones Limb undergrowth Macroglossia Delayed eruption of teeth Clumsiness Coxa vara Dry skin Elevated serum creatine phosphokinase Joint laxity Aplasia/Hypoplasia of the nipples Renal dysplasia Thick lower lip vermilion Telangiectasia Abnormal dermatoglyphics Bifid scrotum Relative macrocephaly Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Chordee Skeletal dysplasia Renal hypoplasia Macrocephaly Pancytopenia Hypoplasia of penis Cardiomyopathy Wide intermamillary distance Dilatation Delayed skeletal maturation Constipation Hypercholesterolemia Postnatal microcephaly Drowsiness Hepatic failure Ventricular septal defect Short neck Vomiting Diarrhea Thrombocytopenia Patent ductus arteriosus Dyspnea Camptodactyly Abnormal cardiac septum morphology Pulmonary hypoplasia Brachydactyly Ascites Cholestasis Large fontanelles Lymphedema Decreased liver function Abnormal intestine morphology Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Intrauterine growth retardation Pancreatic fibrosis Long thorax Hyporeflexia Thyroid hormone receptor defect No permanent dentition Increased T3/T4 ratio Muscle weakness Flexion contracture Delayed speech and language development Peripheral neuropathy Cerebellar atrophy Midface retrusion Distal muscle weakness Ankle contracture Progressive cerebellar ataxia Blepharophimosis Exotropia Hepatic fibrosis Progressive microcephaly Sensorimotor neuropathy Proximal placement of thumb Steatorrhea Shawl scrotum Exocrine pancreatic insufficiency Stage 5 chronic kidney disease Bilateral cleft lip Wide mouth Malignant hyperthermia Clinodactyly of the 5th finger Cerebral cortical atrophy Abnormality of the pinna Downturned corners of mouth Tapered finger Generalized myoclonic seizures Round face Narrow forehead Underdeveloped supraorbital ridges Congenital stationary night blindness Hypoplasia of the corpus callosum Abnormality of brain morphology Horizontal eyebrow Large fleshy ears Multifocal cerebral white matter abnormalities Nystagmus Ptosis Frontal bossing Recurrent infections Apraxia Obesity Muscular hypotonia Cone/cone-rod dystrophy Adrenal insufficiency Facial asymmetry High palate Intellectual disability, mild Severe short stature Coarse facial features Delayed puberty Aspiration Spina bifida Spina bifida occulta Hypopituitarism Seizures Strabismus Ventriculomegaly Behavioral abnormality Prominent forehead Hyperactivity Aggressive behavior Delayed myelination Esotropia Neurodevelopmental delay Oculomotor apraxia Recurrent upper respiratory tract infections Proteinuria Meningoencephalocele Abnormality of vision Overfolded helix Vertebral fusion Abnormal eyelid morphology Bilateral cleft lip and palate High anterior hairline Abnormal hair quantity Unilateral cleft lip Epidermoid cyst Thyroid agenesis Cutaneous syndactyly Dermoid cyst Multiple rows of eyelashes Micrognathia Low-set ears Myopia Renal insufficiency Malar flattening Hernia Umbilical hernia Oligodontia Opacification of the corneal stroma Bilateral ptosis Posteriorly rotated ears Molar tooth sign on MRI Central hypothyroidism Ectopic posterior pituitary Inferior vermis hypoplasia Neoplasm Blindness Syndactyly Clinodactyly Agenesis of corpus callosum Conductive hearing impairment Choanal atresia Abnormality of the eye Sparse hair Finger syndactyly Carious teeth Cleft upper lip Oral cleft Hypodontia Ectodermal dysplasia Small nail Abnormal isoelectric focusing of serum transferrin


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