Micrognathia, and Coloboma

Diseases related with Micrognathia and Coloboma

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

Top matches:

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

TREACHER COLLINS SYNDROME 3; TCS3 Is also known as mandibulofacial dysostosis, treacher collins type, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: MESH OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 3; TCS3

Treacher Collins syndrome is a disorder of craniofacial development characterized by a combination of bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss (Dauwerse et al., 2011).For additional phenotypic information and a discussion of genetic heterogeneity of Treacher Collins syndrome, see TCS1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Downslanted palpebral fissures
  • Malar flattening


SOURCES: OMIM MENDELIAN

More info about TREACHER COLLINS SYNDROME 2; TCS2

Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia).

OCULOAURICULAR SYNDROME, SCHORDERET TYPE Is also known as schorderet-munier-franceschetti syndrome|microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Microphthalmia
  • Rod-cone dystrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OCULOAURICULAR SYNDROME, SCHORDERET TYPE

Other less relevant matches:

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA Is also known as mfda

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA

Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.

OTODENTAL SYNDROME Is also known as globodontia|otodental dysplasia|chromosome 11q13 deletion syndrome|otodental syndrome

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract
  • Anteverted nares


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTODENTAL SYNDROME

Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3 Is also known as diarrhea 3, secretory sodium, congenital, syndromic|csd|sodium diarrhea, congenital

Related symptoms:

  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES; DIAR3

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

Top 5 symptoms//phenotypes associated to Micrognathia and Coloboma

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Cataract Uncommon - Between 30% and 50% cases
Conductive hearing impairment Uncommon - Between 30% and 50% cases
Microcornea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Micrognathia and Coloboma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Anal atresia Microphthalmia Sensorineural hearing impairment Iris coloboma Wide nasal bridge Malar flattening Preauricular pit Choanal atresia Short stature Lower eyelid coloboma Hypertelorism Microtia

Rare Symptoms - Less than 30% cases

Posteriorly rotated ears Protruding ear Polyhydramnios Blepharophimosis Low-set ears Macrocephaly Abnormality of the dentition Short nose Diarrhea Hypoplasia of the maxilla Preauricular skin tag Eyelid coloboma Bifid uvula Narrow mouth Generalized hypotonia Secretory diarrhea Intractable diarrhea Villous atrophy Abnormal intestine morphology Abdominal distention Abnormality of metabolism/homeostasis Abnormal facial shape Downslanted palpebral fissures Atresia of the external auditory canal Bilateral conductive hearing impairment Mandibulofacial dysostosis Facial asymmetry Choanal stenosis Congenital cataract Abnormality of the pinna Rectovaginal fistula Prominent nasal bridge Cleft lip Abnormality of the eye Feeding difficulties in infancy Abnormal cardiac septum morphology Short philtrum Prominent nose Cleft upper lip Thin vermilion border Aplasia/Hypoplasia of the nipples Underdeveloped nasal alae Renal hypoplasia Short palpebral fissure Renal dysplasia Mandibular prognathia Atrial septal defect Inguinal hernia Hernia Abnormally ossified vertebrae Vaginal atresia Ventricular septal defect Vaginal fistula Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Trichorrhexis nodosa Tetraamelia Underdeveloped supraorbital ridges Celiac disease Long nose Sloping forehead Sepsis Narrow palpebral fissure Abnormal palate morphology Optic nerve coloboma Optic atrophy Abnormality of the liver Toe syndactyly Single transverse palmar crease Metabolic acidosis Hydrocephalus Intestinal malrotation Gastrointestinal hemorrhage Cutis laxa Acidosis Cryptorchidism Protracted diarrhea Ureteral duplication Hyponatremia Keratitis Mild short stature Abnormality of digit Corneal erosion Agenesis of corpus callosum Oral cleft Abnormality of vision Abnormality of the larynx 2-3 toe syndactyly Mixed hearing impairment External ear malformation Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Abnormality of the ribs Tracheal stenosis Bilateral choanal atresia/stenosis Missing ribs Vomiting Syndactyly Aplasia/Hypoplasia of the lungs Abnormal lung lobation Multicystic kidney dysplasia Small for gestational age Pulp stones Arthritis Albinism Short mandibular rami Microphakia Exodeviation Inferior chorioretinal coloboma Iris cyst Frontal bossing Telecanthus Congenital sensorineural hearing impairment Premature graying of hair Polar cataract Shallow orbits Osteopetrosis Blue irides Generalized hypopigmentation Depressivity Alopecia Everted lower lip vermilion Dental crowding Posterior synechiae of the anterior chamber Macular hypoplasia Sparse eyelashes Cone/cone-rod dystrophy Nystagmus Strabismus Rod-cone dystrophy Corneal opacity Retinal dystrophy Spina bifida Horizontal nystagmus Spina bifida occulta Chorioretinal coloboma Nasolacrimal duct obstruction Abnormality of the ear Congenital nystagmus Posterior embryotoxon Peripheral visual field loss Increased intraocular pressure Sclerocornea Anterior segment developmental abnormality Anterior synechiae of the anterior chamber Sparse and thin eyebrow Bicuspid aortic valve Hyperactivity Otitis media with effusion Periodontitis Retinal coloboma High-frequency hearing impairment Macrodontia High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Abnormality of the maxilla Ankylosis Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Global developmental delay Microcephaly Failure to thrive High palate Midface retrusion Taurodontia Increased number of teeth Sparse eyebrow Carious teeth Cupped ear Hydroureter Glossoptosis Stenosis of the external auditory canal Trismus Delayed eruption of primary teeth Anteverted nares Long philtrum Long face Progressive sensorineural hearing impairment Delayed eruption of teeth Hypodontia Full cheeks Ectodermal dysplasia Bilateral sensorineural hearing impairment Hypoplasia of dental enamel Gingival overgrowth Abnormality of dental enamel Progressive hearing impairment Aplasia/Hypoplasia involving the pelvis


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