Downslanted palpebral fissures, and Microtia

Diseases related with Downslanted palpebral fissures and Microtia

In the following list you will find some of the most common rare diseases related to Downslanted palpebral fissures and Microtia 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

Other less relevant matches:

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.

DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA Is also known as microdontia-type i microtia-deafness syndrome|deafness, congenital, with labyrinthine aplasia, microtia, and microdontia|deafness with lamm|lamm syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about DEAFNESS WITH LABYRINTHINE APLASIA, MICROTIA, AND MICRODONTIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15

The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.

20P12.3 MICRODELETION SYNDROME Is also known as del(20)(p12.3)|monosomy 20p12.3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about 20P12.3 MICRODELETION SYNDROME

High match COG1-CDG

COG1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.

COG1-CDG Is also known as congenital disorder of glycosylation type iig|cdgii/cog1 cerebrocostomandibular-like syndrome|cdg iig|cdg2g|cdg-iig|congenital disorder of glycosylation type 2g|cdgiig|carbohydrate deficient glycoprotein syndrome type iig|cdg syndrome type iig

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about COG1-CDG

NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION Is also known as au-kline syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER-CRANIOFACIAL DYSMORPHISM-CARDIAC DEFECT-HIP DYSPLASIA SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Downslanted palpebral fissures and Microtia

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Downslanted palpebral fissures and Microtia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Intellectual disability Conductive hearing impairment Hypertelorism Wide nasal bridge Long face Atresia of the external auditory canal Mandibulofacial dysostosis Generalized hypotonia Narrow mouth Long philtrum Microcephaly Midface retrusion Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Downturned corners of mouth High palate Epicanthus Feeding difficulties Hyperactivity Low-set ears Thick vermilion border Hypoplasia of the maxilla Abnormality of the skeletal system Muscular hypotonia Growth delay Seizures Abnormal facial shape Sensorineural hearing impairment Strabismus Cryptorchidism Choanal atresia Coloboma Macrocytic anemia Bilateral conductive hearing impairment Anemia Underdeveloped nasal alae Long palpebral fissure Intrauterine growth retardation Clinodactyly Absent speech Hypospadias Encephalopathy Upslanted palpebral fissure High forehead Overlapping toe Delayed speech and language development Abnormal isoelectric focusing of serum transferrin Inverted nipples Deeply set eye Butterfly vertebrae Thickened nuchal skin fold Enlarged cisterna magna Pierre-Robin sequence Vertebral segmentation defect Failure to thrive in infancy Coxa valga Progressive microcephaly Sparse lateral eyebrow Rhizomelia Smooth philtrum Postnatal growth retardation Low-set, posteriorly rotated ears Pes planus Poor speech Hypermetropia Pectus excavatum Short attention span Tented philtrum Scoliosis Pain Ptosis Ventricular septal defect Hyporeflexia Wide intermamillary distance Constipation Polydactyly Craniosynostosis Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Neurological speech impairment Postaxial polydactyly Hip dysplasia Dolichocephaly Epileptic encephalopathy Oligodontia Bicuspid aortic valve Small hand Everted lower lip vermilion Short foot Tapered finger Long eyelashes Thin upper lip vermilion Sandal gap Plagiocephaly Tented upper lip vermilion Sacral dimple Delayed ability to walk High anterior hairline Open mouth Intellectual disability, moderate Macrocephaly Osteopenia Congenital sensorineural hearing impairment Hernia Respiratory distress Absent stapes Aplasia of the inner ear Cochlear aplasia Microtia, first degree Profound sensorineural hearing impairment Anteverted ears Conical tooth Abnormal cranial nerve morphology Skin tags Arachnoid cyst Increased number of teeth High hypermetropia Delayed gross motor development Webbed neck Abnormality of the outer ear Widely spaced teeth Pointed chin Tall stature Microdontia Prominent nose Hypodontia Synophrys Abnormality of the pinna Unilateral cryptorchidism Sparse eyelashes Choanal stenosis Facial asymmetry Lower eyelid coloboma Bifid uvula Congenital diaphragmatic hernia Kyphoscoliosis Decreased head circumference Short neck Talipes equinovarus Hypertension Failure to thrive Thickened helices Wolff-Parkinson-White syndrome Broad hallux phalanx Broad thumb Full cheeks Pectus carinatum Atrial septal defect Ventriculomegaly Depressed nasal bridge Pretragal ectopia Bilateral choanal atresia Sparse and thin eyebrow Patent ductus arteriosus Sparse eyebrow Mixed hearing impairment Submucous cleft hard palate Severe sensorineural hearing impairment Broad neck Granulocytopenia Macrotia Broad finger Retrognathia Decreased body weight Flared metaphysis Femoral bowing Anotia Acetabular dysplasia Wide nasal ridge


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Blepharophimosis, related diseases and genetic alterations