High palate, and Microphthalmia

Diseases related with High palate and Microphthalmia

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

Top matches:

Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.

OCULOTRICHOANAL SYNDROME Is also known as mota syndrome|marles syndrome|manitoba oculotrichoanal syndrome|marles-greenberg-persaud syndrome

Related symptoms:

  • Hypertelorism
  • High palate
  • Wide nasal bridge
  • Microphthalmia
  • Narrow mouth


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OCULOTRICHOANAL SYNDROME

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency is a rare, genetic, inborn error of branched-chain amino acid metabolism disorder, with a highly variable clinical and biochemical phenotype, typically characterized by mild to severe global developmental delay, elevated methylmalonic acid and, occasionally, lactic acid plasma levels, and chronic methylmalonic aciduria, which may be accompanied by elevation of additional organic or amino acids in urine (e.g. beta-alanine, methionine, 3-hydroxypropionic, 3-aminoisobutyric and/or 3-hydroxyisobutyric acid). Microcephaly, mild craniofacial dysmorphism, axial hypotonia, liver failure, and central nervous system abnormalities on MRI have also been reported.

DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY Is also known as mmsdh deficiency|developmental delay due to aldh6a1 deficiency|developmental delay due to mmsdh deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DEVELOPMENTAL DELAY DUE TO METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY

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

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA 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

MICROPHTHALMIA WITH LIMB ANOMALIES; MLA Is also known as waardenburg anophthalmia syndrome|anophthalmia-syndactyly|ophthalmoacromelic syndrome|oas

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Cleft palate
  • Low-set ears
  • High palate


SOURCES: OMIM MENDELIAN

More info about MICROPHTHALMIA WITH LIMB ANOMALIES; MLA

High match FRASER SYNDROME

Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.

FRASER SYNDROME Is also known as cryptophthalmos-syndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hypertelorism
  • Cryptorchidism
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about FRASER SYNDROME

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

Top 5 symptoms//phenotypes associated to High palate and Microphthalmia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Depressed nasal bridge Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Anteverted nares Intellectual disability Anophthalmia Cleft lip Short nose Low-set ears Feeding difficulties Epicanthus Downslanted palpebral fissures Frontal bossing Cleft palate Prominent forehead Midface retrusion Synophrys Oral cleft Narrow forehead Hypotelorism Holoprosencephaly Dental malocclusion Broad forehead Cryptorchidism Primary amenorrhea Omphalocele Coloboma Abnormality of the hair

Rare Symptoms - Less than 30% cases

Broad nasal tip Macrocephaly Abnormality of the skeletal system Hydrocephalus Encephalocele Upslanted palpebral fissure Macrotia Amenorrhea Hypermetropia Toe syndactyly Microcornea Talipes equinovarus Hypoplasia of the maxilla Corneal opacity Deep philtrum Hypospadias Scaphocephaly Single median maxillary incisor Visual impairment High forehead Thin upper lip vermilion Hearing impairment Seizures Iris coloboma Cleft upper lip Ptosis Narrow mouth Blepharophimosis Generalized hypotonia Conductive hearing impairment Hip dislocation Cataract Vaginal atresia Hernia Abnormal hair pattern Anal stenosis Hypoplasia of the corpus callosum Atresia of the external auditory canal Scrotal hypoplasia Camptodactyly Preauricular pit Cryptophthalmos Posteriorly rotated ears Underdeveloped nasal alae Growth delay Flared nostrils Horseshoe kidney Fused fourth and fifth metacarpals Postaxial foot polydactyly Camptodactyly of 2nd-5th fingers Sandal gap Foot oligodactyly Tibial bowing Metacarpal synostosis Short femur Abnormal renal morphology Hand oligodactyly Fibular hypoplasia Oligodactyly Hemivertebrae Postnatal growth retardation Abnormal vertebral morphology Hypoplastic ilia Deeply set eye Talipes Rhizomelia Abnormality of the genitourinary system Proximal placement of thumb Dislocated radial head Short humerus Hypoplastic scapulae Delayed ossification of pubic rami Split hand Scapulohumeral synostosis Syndactyly Polydactyly Retrognathia Abnormality of cardiovascular system morphology Single transverse palmar crease Postaxial hand polydactyly Abnormality of the cardiovascular system Short palpebral fissure Blindness Ablepharon Umbilical hernia Dandy-Walker malformation Cerebral atrophy Polyhydramnios Gastroesophageal reflux Muscular hypotonia of the trunk Abnormality of the pinna Abnormal cardiac septum morphology Camptodactyly of finger High, narrow palate Everted lower lip vermilion Sepsis Brain atrophy Interphalangeal joint contracture of finger Hyperreflexia Cerebellar vermis hypoplasia Thick lower lip vermilion Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Prominent occiput Poor eye contact Hyperactive deep tendon reflexes Prominent metopic ridge Widow's peak Delayed CNS myelination Interrupted aortic arch Ventricular septal defect Malformed lacrimal duct Low-set, posteriorly rotated ears Tracheal stenosis Finger syndactyly Anal atresia Pulmonary hypoplasia Wide intermamillary distance Ambiguous genitalia Hypoplasia of penis Renal hypoplasia Dental crowding Multicystic kidney dysplasia Vertebral segmentation defect External ear malformation Abnormal lung lobation Calvarial skull defect Midline nasal groove Ectopic anus Bifid tongue Bicornuate uterus Abnormal vagina morphology Subglottic stenosis Laryngeal stenosis Abnormality of the middle ear Female pseudohermaphroditism Urethral atresia Cleft ala nasi Wide pubic symphysis Lacrimal duct aplasia Myelomeningocele Anosmia Malar flattening Protruding ear Absent thumb Abnormality of digit Facial cleft Cyclopia Proboscis Small posterior fossa Exencephaly Brachydactyly Agenesis of corpus callosum Short philtrum Smooth philtrum Exotropia Highly arched eyebrow Prominent nose Flat occiput Partial agenesis of the corpus callosum Median cleft lip Bilateral cleft lip Depressed nasal tip Bilateral cleft lip and palate Broad face Panhypopituitarism Trigonocephaly Ectodermal dysplasia Median cleft lip and palate Sparse hair Upper eyelid coloboma Nasolacrimal duct obstruction Muscular hypotonia Broad columella Bifid nasal tip Eyelid coloboma Dystonia Anteriorly placed anus Long philtrum Acidosis Lactic acidosis Astigmatism Hepatic failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Postnatal microcephaly Infantile muscular hypotonia Tented upper lip vermilion Adducted thumb Intellectual disability, severe Renal agenesis Bilateral microphthalmos Midline defect of the nose Respiratory insufficiency Hyposmia Hypogonadism Micropenis Muscular dystrophy Delayed puberty Choanal atresia Hypogonadotrophic hypogonadism Reduced number of teeth Limb-girdle muscular dystrophy Agenesis of permanent teeth Hypoplastic labia majora Lacrimation abnormality Edema Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Absent paranasal sinuses Short stature Micrognathia Flexion contracture Inguinal hernia Abnormal lacrimal duct morphology Parietal bossing Infertility Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Nystagmus Strabismus Myopia Telecanthus Congenital diaphragmatic hernia Abnormality of the breast Narrow palpebral fissure Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Increased circulating gonadotropin level Congenital ptosis Epicanthus inversus Unilateral ptosis Female infertility Premature atrial contractions Hand clenching


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