Microphthalmia, and Hypotelorism

Diseases related with Microphthalmia and Hypotelorism

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

Top matches:

HOLOPROSENCEPHALY 3; HPE3 Is also known as hlp3

Related symptoms:

  • Microcephaly
  • Strabismus
  • Ptosis
  • Depressed nasal bridge
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 3; HPE3

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

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

Other less relevant matches:

A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene.

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 2; HPE2

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME Is also known as premature aging syndrome, penttinen type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS-KELOID-LIKE LESIONS-PREMATURE AGING SYNDROME

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by short stature, conductive hearing loss due to bilateral auditory canal atresia, mandibular hypoplasia and multiple skeletal abnormalities, including bilateral humeral hypoplasia, humeroscapular synostosis, delayed pubis rami ossification, central dislocation of the hips, and proximal femora defects, as well as bilateral talipes equinovarus, proximally implanted thumbs and lumbar hyperlordosis. Associated craniofacial dysmorphism includes micro/scaphocephaly, malar hypoplasia, high-arched palate, and simple, dysplastic pinnae with prearicular pits/tags.

SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES SYNDROME Is also known as sams syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SHORT STATURE-AUDITORY CANAL ATRESIA-MANDIBULAR HYPOPLASIA-SKELETAL ANOMALIES 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

Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE Is also known as face

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP E; FANCE

Holoprosencephaly-9 refers to a disorder characterized by a wide phenotypic spectrum of brain developmental defects, with or without overt forebrain cleavage abnormalities. It usually includes midline craniofacial anomalies involving the first branchial arch and/or orbits, pituitary hypoplasia with panhypopituitarism, and postaxial polydactyly. The disorder shows incomplete penetrance and variable expressivity (summary by Roessler et al., 2003 and Bertolacini et al., 2012).For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (OMIM ).

HOLOPROSENCEPHALY 9; HPE9 Is also known as holoprosencephaly with microphthalmia and first branchial arch anomalies|pituitary anomalies with holoprosencephaly-like features

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 9; HPE9

Solitary median maxillary central incisor syndrome (SMMCI) is a complex disorder consisting of multiple, mainly midline, defects of development resulting from unknown factor(s) operating in utero from about the 35th-38th day after conception.

SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME Is also known as single central maxillary incisor|smmci|fused incisors|single upper central incisor|incisors, fused

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Hypotelorism

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Holoprosencephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Single median maxillary incisor Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Microphthalmia and Hypotelorism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Midface retrusion

Uncommon Symptoms - Between 30% and 50% cases

Agenesis of corpus callosum Cleft lip Anteverted nares Seizures Short nose Semilobar holoprosencephaly Macrocephaly Short stature Cleft palate Hypertelorism Strabismus Oral cleft Cryptorchidism Cyclopia Ptosis Depressed nasal bridge Malar flattening Coloboma Hearing impairment Hypermetropia Growth delay Panhypopituitarism Median cleft lip and palate Brachydactyly Epicanthus Proboscis Respiratory insufficiency Scoliosis Median cleft lip Hydrocephalus Macrotia Abnormal facial shape Astigmatism High palate Exotropia Broad forehead Microcornea

Rare Symptoms - Less than 30% cases

Delayed skeletal maturation Bilateral cleft lip Bilateral cleft lip and palate Renal agenesis Anophthalmia Short philtrum Anterior pituitary agenesis Narrow nasal bridge Diabetes insipidus Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Single naris Partial agenesis of the corpus callosum Micrognathia Low-set ears Flexion contracture Iris coloboma Flat occiput Micropenis Ectodermal dysplasia Abnormality of the skeletal system Cleft upper lip Upslanted palpebral fissure Hypoplasia of the maxilla Growth hormone deficiency Absent thumb Abnormality of digit Scaphocephaly Downslanted palpebral fissures Wide nasal bridge Dental malocclusion Syndactyly Intrauterine growth retardation Protruding ear Short thumb Ventricular septal defect Absent radius Horseshoe kidney Reticulocytopenia Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Chromosomal breakage induced by crosslinking agents Cafe-au-lait spot Duplicated collecting system Prolonged G2 phase of cell cycle Ectopic kidney Bone marrow hypocellularity Complete duplication of thumb phalanx Hypergonadotropic hypogonadism Neoplasm Pancytopenia Hypernatremia Poor head control Hypoplasia of the brainstem Non-midline cleft lip Absent septum pellucidum Ectrodactyly Aplasia/Hypoplasia of the radius Megalocornea Gonadotropin deficiency Central diabetes insipidus Long hallux Duplication of thumb phalanx Neutropenia Hypoplasia of the frontal bone Lobar holoprosencephaly Anemia Abnormality of cardiovascular system morphology Thrombocytopenia Abnormal heart morphology Brachycephaly Small for gestational age Leukemia Abnormality of skin pigmentation Bruising susceptibility Respiratory distress Abdominal situs ambiguus Polydactyly Tented upper lip vermilion Asthma Premature birth Specific learning disability Tetralogy of Fallot Ambiguous genitalia Hypoplasia of penis Depressed nasal ridge Choanal atresia Hemangioma EMG: myopathic abnormalities Anosmia Precocious puberty Severe short stature Hamartoma Maternal diabetes Duodenal atresia Abnormality of chromosome segregation Hyposmia Nasal obstruction Abnormality of the nasopharynx Hypothalamic hamartoma Torus palatinus Prominent median palatal raphe Pyriform aperture stenosis Hypothyroidism Intellectual disability, mild Microtia Neurodevelopmental delay Pulmonic stenosis Pulmonary hypoplasia Postaxial polydactyly Postaxial hand polydactyly Sloping forehead Coarctation of aorta Preauricular skin tag Hemivertebrae Optic nerve hypoplasia Patent foramen ovale Heart murmur Skin tags Diastolic heart murmur Abnormal cortical gyration Cutaneous syndactyly Large forehead Anterior pituitary hypoplasia Wide cranial sutures Prominent antihelix Thoracic hemivertebrae Underdeveloped tragus Short hard palate Agenesis of incisor Asymmetric ventricles Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Encephalocele Hypoplastic philtrum Nystagmus Muscular hypotonia Cataract Constipation Cerebellar hypoplasia Bifid uvula Submucous cleft hard palate Adrenal hypoplasia Chronic constipation Single ventricle Aplasia of the nose Flat nasal alae Sensorineural hearing impairment Edema Alopecia Osteoporosis Hyperkeratosis Proptosis Kyphoscoliosis Osteopenia Retrognathia Sparse hair Generalized hypotonia Fusion of the left and right thalami Prominent nasal bridge Frontal bossing Abnormality of the nose Hypoplasia of the fovea Intellectual disability, severe Synophrys Narrow forehead Deep philtrum Trigonocephaly Facial cleft Small posterior fossa Exencephaly Hydronephrosis Parietal bossing Thin upper lip vermilion Dilatation Smooth philtrum Highly arched eyebrow Prominent nose Omphalocele Depressed nasal tip Broad face Bilateral microphthalmos Midline defect of the nose Scarring Thin vermilion border Split hand Delayed ossification of pubic rami Hip dislocation Talipes Rhizomelia Atresia of the external auditory canal Proximal placement of thumb Preauricular pit Dislocated radial head Short humerus Hypoplastic scapulae Hypoplastic ilia Scapulohumeral synostosis Deeply set eye Hypospadias Posteriorly rotated ears Hypogonadism Neonatal hypotonia Telecanthus Low-set, posteriorly rotated ears Craniosynostosis Severe global developmental delay Wide nose Intellectual disability, profound Conductive hearing impairment Narrow mouth Delayed eruption of teeth Long nose Recurrent fractures Abnormality of the skin Fine hair Thin skin Wormian bones Growth abnormality Cachexia Dermal atrophy Pterygium Delayed cranial suture closure Lipoatrophy Prominent forehead Slender long bone Prematurely aged appearance Striae distensae Narrow nose Shallow orbits Osteolytic defects of the phalanges of the hand Increased thyroid-stimulating hormone level Narrow philtrum Thin calvarium Feeding difficulties Talipes equinovarus Midnasal stenosis


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