Hypertelorism, and Intrauterine growth retardation

Diseases related with Hypertelorism and Intrauterine growth retardation

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

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Other less relevant matches:

SIX2-RELATED FRONTONASAL DYSPLASIA Is also known as six2-related fnd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about SIX2-RELATED FRONTONASAL DYSPLASIA

Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Ververi-Brady syndrome is a disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. Affected individuals can usually attend mainstream schools with support, and may also show autistic features (summary by Ververi et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERVERI-BRADY SYNDROME; VERBRAS

High match IVEMARK SYNDROME

Right atrial isomerism is a severe complex congenital heart defect resulting from embryonic disruption of proper left-right axis determination. RAI is usually characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries. Affected individuals present at birth with severe cardiac failure. Other associated abnormalities include bilateral trilobed lungs, midline liver, and asplenia, as well as situs inversus affecting other organs. Left atrial isomerism (LAI) is a related disorder with a somewhat better prognosis. LAI is characterized by bilateral superior vena cava, interruption of the intrahepatic portion of the inferior vena cava, partial anomalous pulmonary venous drainage, and ventricular septal defect. Patients with LAI may have polysplenia and bilateral bilobed lungs, as well as situs inversus affecting other organs. Both RAI and LAI malformation complexes have classically been referred to as Ivemark syndrome (summary by Eronen et al., 2004 and Kaasinen et al., 2010).

IVEMARK SYNDROME Is also known as ivemark syndrome|asplenia with cardiovascular anomalies|right isomerism

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Low-set ears
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: OMIM ORPHANET MENDELIAN

More info about IVEMARK SYNDROME

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME Is also known as alx4-related fndag|frontonasal dysplasia type 2|frontonasal dysplasia with alopecia and genital abnomality|craniofrontonasal dysplasia with alopecia and hypogonadism

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Cryptorchidism
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about FRONTONASAL DYSPLASIA-ALOPECIA-GENITAL ANOMALIES SYNDROME

An autosomal recessive form of Kenny-Caffey syndrome due to mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. This condition is characterized by hypoparathyroidism with hypocalcemia, marked growth retardation, craniofacial anomalies, absent diploic space in the skull, cortical thickening of long bones with medullary stenosis, and small hands and feet.

AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME Is also known as kcs|kenny-caffey syndrome, autosomal recessive

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE KENNY-CAFFEY SYNDROME

Related symptoms:

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 9; LCCS9

Top 5 symptoms//phenotypes associated to Hypertelorism and Intrauterine growth retardation

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Intrauterine growth retardation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Small for gestational age Global developmental delay Microcephaly Ptosis Failure to thrive

Rare Symptoms - Less than 30% cases

Anteverted nares Brachycephaly Intellectual disability, mild Broad nasal tip Decreased fetal movement Intellectual disability Frontal bossing Wide nose Scoliosis Macrocephaly Thin upper lip vermilion Upslanted palpebral fissure Agenesis of corpus callosum Talipes equinovarus Hepatomegaly Flexion contracture Anemia Heterotaxy Scrotal hypoplasia Telecanthus Intellectual disability, moderate Underdeveloped nasal alae Oligohydramnios Fine hair Encephalocele Coronal craniosynostosis Abnormal lung lobation Atrioventricular canal defect Dextrocardia Calvarial skull defect Situs inversus totalis Conical tooth Broad philtrum Agenesis of cerebellar vermis Hypogonadism Choanal stenosis Polysplenia Right atrial isomerism Biliary atresia Common atrium Single ventricle Abdominal situs inversus Left atrial isomerism Anomalous pulmonary venous return Bilateral trilobed lungs Seizures Nystagmus Total anomalous pulmonary venous return Strabismus Cryptorchidism Complete atrioventricular canal defect Abnormality of the dentition Microphthalmia Alopecia Pulmonary artery atresia Asplenia Bifid nose Short foot Delayed skeletal maturation Triangular face Calvarial osteosclerosis Hypertension Myopathy Respiratory failure Polyhydramnios Kyphoscoliosis Camptodactyly Arthrogryposis multiplex congenita Talipes Pulmonary hypoplasia Joint contracture of the hand Thin long bone diaphyses Adducted thumb Pterygium Congenital contracture Bilateral talipes equinovarus Ankylosis Cardiorespiratory arrest Preeclampsia Ulnar deviation of the hand Thoracic kyphoscoliosis Abnormality of the diaphragm Stenosis of the medullary cavity of the long bones Congenital hypoparathyroidism Postnatal growth retardation Proportionate short stature Carious teeth Short palm Small hand Anal atresia Full cheeks Hypocalcemia Recurrent bacterial infections Delayed cranial suture closure Slender long bone Thin ribs Hypoparathyroidism Cortical thickening of long bone diaphyses Severe postnatal growth retardation Hypomagnesemia Decreased skull ossification Tetany Delayed closure of the anterior fontanelle Generalized tonic seizures Long clavicles Hypocalcemic seizures Hypocalcemic tetany Birth length less than 3rd percentile Thin clavicles Ambiguous genitalia Intention tremor Pulmonic stenosis Decreased serum iron Woolly hair Villous atrophy Trichorrhexis nodosa Hypochromic microcytic anemia Bloody diarrhea Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Long philtrum Colitis Syndactyly Thrombocytopenia Clinodactyly Finger syndactyly Abnormality of the cardiovascular system Pyloric stenosis Trigonocephaly Radial deviation of finger Prolonged bleeding time Microcytic anemia Brittle hair Short stature Premature atrial contractions Diabetes mellitus Macroglossia Overgrowth Dehydration Type II diabetes mellitus Hyperglycemia Glucose intolerance Severe intrauterine growth retardation Severe failure to thrive Transient neonatal diabetes mellitus Chronic diarrhea Hypoinsulinemia Wide nasal bridge Diarrhea Immunodeficiency Prominent forehead Abnormality of the liver Sparse hair Cirrhosis Hepatitis Megakaryocyte dysplasia Posteriorly rotated ears Abnormal cardiac septum morphology Everted lower lip vermilion Tremor Elevated serum creatine phosphokinase Autism Abnormality of the nervous system Autistic behavior Wide mouth Smooth philtrum Unsteady gait Falls Prominent nose Pain Frequent falls Cupped ear Mildly elevated creatine phosphokinase Impaired social interactions Ventricular septal defect Atrial septal defect Congestive heart failure Abnormality of cardiovascular system morphology Abnormal heart morphology Delayed speech and language development Generalized hypotonia High forehead Aplasia/Hypoplasia of the frontal sinuses Abnormality of the kidney Wide anterior fontanel Abnormality of the thyroid gland Epicanthus inversus Metopic synostosis Abnormality of the skull base Absent/hypoplastic paranasal sinuses Premature posterior fontanelle closure Prominent palatine ridges Cleft palate Abnormal cortical gyration High palate Short neck Edema Proptosis Abnormality of the pinna Ichthyosis Sloping forehead Depressed nasal ridge Rocker bottom foot Short umbilical cord


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