Abnormal facial shape, and Conductive hearing impairment

Diseases related with Abnormal facial shape and Conductive hearing impairment

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Conductive hearing impairment that can help you solving undiagnosed cases.


Top matches:

Low match TREACHER COLLINS SYNDROME 2; TCS2


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

Low match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

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Other less relevant matches:

Low match CRANIODIAPHYSEAL DYSPLASIA


Craniodiaphyseal dysplasia is a rare sclerotic bone disorder with a variable phenotypic expression with massive generalized hyperostosis and sclerosis, particularly of the skull and facial bones, that may lead to severe deformity.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Depressed nasal bridge
  • Wide nasal bridge
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIODIAPHYSEAL DYSPLASIA

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Low match OSTEOGENESIS IMPERFECTA, TYPE XII; OI12


Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).

OSTEOGENESIS IMPERFECTA, TYPE XII; OI12 Is also known as oi, type xii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XII; OI12

Low match DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA15


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

Low match MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA


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

Low match BRANCHIOOTIC SYNDROME


Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).

BRANCHIOOTIC SYNDROME Is also known as bo syndrome 1|branchiootic dysplasia

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIOOTIC SYNDROME

Low match SECOND BRANCHIAL CLEFT ANOMALY


Agnathia-otocephaly is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

SECOND BRANCHIAL CLEFT ANOMALY Is also known as dysgnathia complex agnathia-holoprosencephaly|otocephaly|second branchial cleft cyst|holoprosencephaly-agnathia|second branchial cleft fistula

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SECOND BRANCHIAL CLEFT ANOMALY

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Conductive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Facial asymmetry Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Conductive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Stenosis of the external auditory canal Sensorineural hearing impairment Mixed hearing impairment Malar flattening Narrow mouth Microtia Low-set ears Atresia of the external auditory canal

Rare Symptoms - Less than 30% cases


Mandibulofacial dysostosis Midface retrusion Abnormality of the outer ear Protruding ear Retrognathia Glossoptosis Posteriorly rotated ears Abnormality of the pinna Cupped ear Sparse eyebrow Preauricular skin tag Hypoplasia of the maxilla Sparse and thin eyebrow Respiratory distress Preauricular pit Severe sensorineural hearing impairment Depressed nasal bridge Coloboma Intellectual disability Brachydactyly Short palm Wide nasal bridge Anal atresia Hyperplasia of the maxilla Delayed eruption of primary teeth Eyelid coloboma Trismus Hydroureter Tracheomalacia Microglossia Bicuspid aortic valve Sparse eyelashes Hypoplasia of the epiglottis Dental crowding Mandibular aplasia Everted lower lip vermilion Laryngeal hypoplasia Alobar holoprosencephaly Alopecia Depressivity Short nose Proboscis Aglossia Abnormality of the dentition Lower eyelid coloboma Transposition of the great arteries Abnormality of the eye Intestinal malrotation Polyhydramnios Agenesis of corpus callosum Abnormal heart morphology Atrial septal defect Talipes equinovarus Dilatated internal auditory canal Pulmonary hypoplasia Morphological abnormality of the middle ear Branchial anomaly Hypoplasia of the cochlea Cochlear malformation Lip pit Branchial fistula Facial palsy Abnormality of the inner ear Branchial cyst Body odor Abnormal nasolacrimal system morphology Upper airway obstruction Obstructive sleep apnea Hypotelorism Laryngomalacia Sleep apnea Situs inversus totalis Holoprosencephaly Apnea Abnormality of the kidney Tracheobronchomalacia Feeding difficulties Granulocytopenia Flared metaphysis Epiphyseal dysplasia Coxa valga Short phalanx of finger Round face Flat face Genu valgum Myopia Cataract Facial hyperostosis Diaphyseal dysplasia Diaphyseal sclerosis Diaphyseal thickening Craniofacial hyperostosis Hyperostosis Anonychia Abnormality of the ribs Coarse facial features Frontal bossing Macrocephaly Optic atrophy Symphalangism affecting the phalanges of the hand Cone-shaped epiphysis Bilateral single transverse palmar creases Abnormality of the nail Broad thumb Joint stiffness Bilateral conductive hearing impairment Choanal stenosis Choanal atresia Spondyloepiphyseal dysplasia Retinal dysplasia Broad neck Progressive hearing impairment Submucous cleft hard palate Macrocytic anemia Congenital diaphragmatic hernia Webbed neck Bifid uvula Hernia Epicanthus Anemia Global developmental delay Thoracic platyspondyly Dentinogenesis imperfecta Generalized osteoporosis Increased susceptibility to fractures Prominent supraorbital ridges Wormian bones Multiple epiphyseal dysplasia Increased bone mineral density Recurrent fractures Delayed eruption of teeth Platyspondyly Pectus carinatum Osteopenia Osteoporosis Prominent forehead Abnormality of cardiovascular system morphology Motor delay High palate Scoliosis Asteroid hyalosis Retinal thinning Synotia



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