Hypertelorism, and Holoprosencephaly

Diseases related with Hypertelorism and Holoprosencephaly

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

Top matches:

Anencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.

Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Talipes equinovarus
  • Hydrocephalus
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED ANENCEPHALY/EXENCEPHALY

Holoprosencephaly associated with mutations in the ZIC2 gene.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about HOLOPROSENCEPHALY 5; HPE5

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Other less relevant matches:

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

High match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

High match MONOSOMY 13Q14

Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl. micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism.

MONOSOMY 13Q14 Is also known as del(13)(q14)|chromosome 13q deletion syndrome|deletion 13q14

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MONOSOMY 13Q14

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Top 5 symptoms//phenotypes associated to Hypertelorism and Holoprosencephaly

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Hydrocephalus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microphthalmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Oral cleft Cryptorchidism Hypotelorism Micropenis Absent septum pellucidum Epicanthus Wide nasal bridge Cleft lip Omphalocele Frontal bossing Protruding ear Brachydactyly Semilobar holoprosencephaly Ventricular septal defect Oligohydramnios Low-set ears Agenesis of corpus callosum Short neck Syndactyly Posteriorly rotated ears Cleft upper lip Broad forehead Intrauterine growth retardation Short nose Macrocephaly Global developmental delay Abnormal facial shape Ptosis High palate Abnormality of cardiovascular system morphology Intellectual disability, severe Anencephaly

Rare Symptoms - Less than 30% cases

Hydronephrosis Intestinal malrotation Low-set, posteriorly rotated ears Pulmonary hypoplasia Preaxial polydactyly Cataract Micrognathia Asplenia Situs inversus totalis Renal agenesis Anal atresia Dandy-Walker malformation Recurrent respiratory infections Abnormal heart morphology Hypoplastic nipples Patent ductus arteriosus Median cleft lip and palate Depressed nasal tip Bilateral cleft lip Median cleft lip Iris coloboma Talipes Polydactyly High forehead Hernia Hearing impairment Central diabetes insipidus Single transverse palmar crease Ectrodactyly Patent foramen ovale Ectodermal dysplasia Talipes equinovarus Telecanthus Inguinal hernia Respiratory insufficiency Ambiguous genitalia Postaxial hand polydactyly Growth delay Lobar holoprosencephaly Urethral atresia Accessory spleen Thin upper lip vermilion Anophthalmia Aplasia/Hypoplasia of the corpus callosum Encephalocele Pancreatic cysts Split hand Abnormal lung lobation Microcornea Depressed nasal bridge Upslanted palpebral fissure Seizures Single median maxillary incisor Macrotia Abnormality of digit Trigonocephaly Deep philtrum Coloboma Anteverted nares Midface retrusion Abnormality of the gastrointestinal tract Hypogonadotrophic hypogonadism Webbed neck Growth hormone deficiency Nail dysplasia Microdontia Sparse scalp hair Choanal atresia Thin skin Abnormality of the genital system Renal dysplasia Hypohidrosis Sparse and thin eyebrow Conjunctivitis Broad nasal tip Synophrys Sparse eyelashes Oligodontia Abnormality of the genitourinary system Abnormality of the urinary system Everted lower lip vermilion Hand polydactyly Keratitis Epiphora Hydroureter Thick eyebrow Hypopituitarism Vesicoureteral reflux Hypodontia Aplasia/Hypoplasia of the thumb Hyperkeratosis Thickened helices Retinoblastoma Anteverted ears Leukocoria Fever Malar flattening Immunodeficiency Recurrent infections Supernumerary nipple Alopecia Hypermetropia Photophobia Hypoplasia of the maxilla Conductive hearing impairment Blepharophimosis Microtia Abnormal dermatoglyphics Short philtrum Finger clinodactyly Small for gestational age Xerostomia Toe syndactyly Abnormality of the foot Wide anterior fontanel Open mouth Carious teeth Blepharitis Thin vermilion border Metaphyseal irregularity Natal tooth Broad palm Short finger Milia Short thorax Bowing of the legs Short long bone Broad foot Disproportionate short-limb short stature Bilateral single transverse palmar creases Short ribs Short toe Renal hypoplasia Limb undergrowth Protuberant abdomen Microglossia Ascites Lobulated tongue Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Hamartoma of tongue Horizontal ribs Single umbilical artery Cystic renal dysplasia Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Wide intermamillary distance Renal cyst Split foot Rectovaginal fistula Nasolacrimal duct obstruction Selective tooth agenesis Bladder diverticulum Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Dysuria Abnormality of the nasopharynx Heat intolerance Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Duplicated collecting system Nail pits Short foot Edema Short palm Flat face Narrow chest Abnormality of the pinna Polyhydramnios Splenomegaly Respiratory distress Ureterocele Hepatomegaly Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Dacryocystitis Bulbous nose Wide mouth Dolichocephaly Joint stiffness Pulmonic stenosis Adducted thumb Dyskinesia Increased intracranial pressure Small hand Spina bifida Cardiomegaly Spastic paraplegia Dextrocardia Ciliary dyskinesia Transposition of the great arteries Double outlet right ventricle Myelomeningocele Polysplenia Duodenal atresia Bilateral cryptorchidism Pulmonary artery atresia Abdominal situs inversus Heterotaxy Biliary atresia Common atrium Single ventricle Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Coarse facial features Retrognathia Optic atrophy Babinski sign Respiratory tract infection Cerebellar hypoplasia Full cheeks Panhypopituitarism Abnormality of the diaphragm Primary adrenal insufficiency Smooth philtrum Neural tube defect Highly arched eyebrow Prominent nose Dental malocclusion Flat occiput Partial agenesis of the corpus callosum Flexion contracture of thumb Esodeviation Oxycephaly Bilateral cleft lip and palate Broad face Bilateral microphthalmos Hemiplegia/hemiparesis Visceromegaly Midline defect of the nose Parietal bossing Abnormality of neuronal migration Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Failure to thrive Aplasia/Hypoplasia of the cerebellum Atrial septal defect Aqueductal stenosis Arrhythmia Hyporeflexia Hypertonia Hip dislocation Hypoplasia of the frontal bone Intellectual disability, profound Cutaneous syndactyly Poor head control Hypoplasia of the brainstem Diabetes insipidus Non-midline cleft lip Exotropia Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Narrow forehead Long hallux Hypernatremia Duplication of thumb phalanx Short stature Absent thumb Generalized hypotonia Muscular hypotonia Cognitive impairment Delayed speech and language development Hypoplasia of the corpus callosum Long philtrum Clinodactyly Clinodactyly of the 5th finger Abnormality of the skeletal system Astigmatism Muscular hypotonia of the trunk Calvarial skull defect Prominent nasal bridge Finger syndactyly Wide nose Severe global developmental delay Sloping forehead Aplasia/Hypoplasia of the iris Hyperreflexia Depressed nasal ridge Spasticity Bowing of the long bones Multicystic kidney dysplasia Strabismus Preaxial hand polydactyly Male pseudohermaphroditism Postaxial foot polydactyly Sclerocornea Furrowed tongue Congenital hepatic fibrosis Ureteral duplication Nystagmus Abnormal chorioretinal morphology Craniosynostosis Cyclopia Neonatal hypotonia Hypogonadism Facial cleft Hypospadias Scaphocephaly Downslanted palpebral fissures Congenital diaphragmatic hernia Exencephaly Proboscis Cystic liver disease Small posterior fossa True hermaphroditism Pancreatic fibrosis Aplasia/Hypoplasia of the tongue Absent internal genitalia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Short philtrum, related diseases and genetic alterations Macrocephaly and Vomiting, related diseases and genetic alterations Obesity and Postaxial polydactyly, related diseases and genetic alterations Spasticity and Gait ataxia, related diseases and genetic alterations Nystagmus and Brachydactyly, related diseases and genetic alterations