Hypertelorism, and Failure to thrive

Diseases related with Hypertelorism and Failure to thrive

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

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

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

LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

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

High match GRANGE SYNDROME

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25 Is also known as coxpd25

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 25

Top 5 symptoms//phenotypes associated to Hypertelorism and Failure to thrive

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Prominent forehead Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Failure to thrive. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Growth delay Intellectual disability Short nose Delayed speech and language development Macrocephaly Hyperactivity Seizures

Rare Symptoms - Less than 30% cases

Growth hormone deficiency Feeding difficulties Frontal bossing Aggressive behavior Constipation Abnormal heart morphology Sensorineural hearing impairment Open mouth Relative macrocephaly Delayed myelination Large forehead Broad nasal tip Poor speech Broad forehead Strabismus Behavioral abnormality Pulmonic stenosis Hearing impairment Dilatation Intrauterine growth retardation Wide nasal bridge Cerebral atrophy Small for gestational age Immunodeficiency Long philtrum Ventriculomegaly Narrow nasal bridge Cardiomyopathy Periorbital fullness Calvarial skull defect Melanocytic nevus Hypermelanotic macule Ventricular septal defect Deep philtrum Renal insufficiency Sarcoma Melanoma Syndactyly Rhabdomyosarcoma Narrow nasal ridge Thick hair Pain Cognitive impairment Hypothyroidism Telecanthus Esotropia Microcephaly Neurodevelopmental delay Hypertension Epicanthus Brachydactyly Nevus spillus Congenital giant melanocytic nevus Prominence of the premaxilla Epidermal nevus Cutaneous melanoma Upslanted palpebral fissure Finger clinodactyly Clinodactyly Hypermethioninemia Hepatic steatosis Coarctation of aorta Cholestasis Progressive muscle weakness Decreased liver function Hyperbilirubinemia Secundum atrial septal defect Portal fibrosis Narrow foot Atrial septal defect Short stature Low-set ears Anteverted nares Cerebellar atrophy Gastroesophageal reflux Pectus carinatum Increased body weight Preeclampsia Elevated hepatic transaminase Skeletal muscle atrophy Patent ductus arteriosus Bicuspid aortic valve Abdominal pain Short palm Recurrent fractures Specific learning disability Decreased body weight Neoplasm of the skin Aortic regurgitation Cutaneous syndactyly Increased susceptibility to fractures Muscle weakness Cutaneous finger syndactyly Perimembranous ventricular septal defect Gastritis Arterial stenosis Intellectual disability, borderline Coronary artery stenosis Renal artery stenosis Renovascular hypertension Carotid artery stenosis Hypopigmented skin patches Bronchiolitis Generalized hirsutism Bloody diarrhea Brittle hair Colitis Microcytic anemia Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Chronic hepatitis Hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Neonatal hypotonia Abnormality of the pinna Protruding ear Anteriorly placed anus Chronic diarrhea Wide nose Underdeveloped superior crus of antihelix Severe intrauterine growth retardation Talipes equinovarus Diabetes mellitus Macroglossia Overgrowth Dehydration Type II diabetes mellitus Hyperglycemia Glucose intolerance Severe failure to thrive Cirrhosis Premature atrial contractions Transient neonatal diabetes mellitus Hypoinsulinemia Anemia Hepatomegaly Diarrhea Abnormality of the liver Sparse hair Frontal upsweep of hair Nystagmus Subcutaneous nodule Bronchiolitis obliterans Emphysema Chromosome breakage Mild global developmental delay Prominent superficial veins Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Neoplasm Wide anterior fontanel Hydrocephalus Papule Pruritus Abnormality of skin pigmentation Everted lower lip vermilion Full cheeks Nevus Round face Failure to thrive in infancy Abnormal lung morphology Downslanted palpebral fissures Stereotypy Obesity Autism Retrognathia Anxiety Intellectual disability, moderate Irritability Attention deficit hyperactivity disorder Apraxia Drooling Eczema Delayed gross motor development Language impairment Delayed ability to walk Speech apraxia Recurrent infections Midface retrusion Pneumonia Muscular hypotonia of the trunk Intraventricular hemorrhage


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