Hearing impairment, and Midface retrusion

Diseases related with Hearing impairment and Midface retrusion

In the following list you will find some of the most common rare diseases related to Hearing impairment and Midface retrusion that can help you solving undiagnosed cases.


Top matches:

Medium match ISOLATED PLAGIOCEPHALY


Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.

ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis|synostotic plagiocephaly

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Strabismus
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED PLAGIOCEPHALY

Medium match ISOLATED BRACHYCEPHALY


Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.

ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Hypertelorism
  • Brachydactyly
  • Midface retrusion


SOURCES: ORPHANET MENDELIAN

More info about ISOLATED BRACHYCEPHALY

Medium match DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14


Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Anemia


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS; DBA14

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Other less relevant matches:

Medium match FIBROCHONDROGENESIS 2; FBCG2


Fibrochondrogenesis is a severe skeletal dysplasia characterized by a flat midface, short long bones, short ribs with broad metaphyses, and vertebral bodies that show distinctive hypoplastic posterior ends and rounded anterior ends, giving the vertebral bodies a pinched appearance on lateral radiographic views. The chest is small, causing perinatal respiratory problems which usually, but not always, result in lethality. Affected individuals who survive the neonatal period have high myopia, mild to moderate hearing loss, and severe skeletal dysplasia (summary by Tompson et al., 2012).For a discussion of genetic heterogeneity of fibrochondrogenesis, see FBCG1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Myopia
  • Macrocephaly
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about FIBROCHONDROGENESIS 2; FBCG2

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

Medium match PFEIFFER SYNDROME TYPE 1


Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.

PFEIFFER SYNDROME TYPE 1 Is also known as classic pfeiffer syndrome

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Low-set ears
  • High palate
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 1

Medium 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

Medium match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Medium match AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME


Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.

AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME Is also known as ddod syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT DEAFNESS-ONYCHODYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Midface retrusion

Symptoms // Phenotype % cases
Micrognathia Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hearing impairment and Midface retrusion. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate High myopia Proptosis Platyspondyly Hypertelorism Facial asymmetry Frontal bossing Macrocephaly

Rare Symptoms - Less than 30% cases


Nail dysplasia Increased intracranial pressure Small nail Pectus carinatum Brachycephaly Myopia Glossoptosis Short nose High palate Depressed nasal bridge High forehead Anteverted nares Metaphyseal widening Toe syndactyly Abnormality of the skeletal system Gait ataxia Syndactyly Overgrowth Mandibular prognathia Facial palsy Dental malocclusion Generalized osteoporosis Gait disturbance Recurrent fractures Prominent forehead Osteoporosis Narrow mouth Osteopenia Protruding ear Delayed eruption of teeth Increased bone mineral density Thoracic platyspondyly Wormian bones Progressive hearing impairment Prominent supraorbital ridges Increased susceptibility to fractures Mixed hearing impairment Hyperostosis Dentinogenesis imperfecta Tetraparesis Dolichocephaly Short finger Abnormality of the hand Hidrotic ectodermal dysplasia Absent toenail Anhidrotic ectodermal dysplasia Selective tooth agenesis Hypoplasia of teeth High-frequency hearing impairment Conical tooth Severe sensorineural hearing impairment Aplasia cutis congenita Abnormality of digit Agenesis of permanent teeth Anonychia Congenital sensorineural hearing impairment Triphalangeal thumb Reduced number of teeth Cutaneous finger syndactyly Motor delay Sclerotic vertebral endplates Seizures Abnormal facial shape Pes planus Deeply set eye Nail dystrophy Joint hypermobility Oligodontia Short distal phalanx of finger Ectodermal dysplasia Hypotelorism Bilateral sensorineural hearing impairment Hypertrichosis Gingival overgrowth Abnormality of cardiovascular system morphology Aqueductal stenosis Scoliosis Macrocytic anemia Pectus excavatum Cupped ribs Hypoplastic pubic bone Hypoplastic ischia Metaphyseal cupping Hypoplastic ilia Bell-shaped thorax Protuberant abdomen Thoracic hypoplasia Short ribs Wide anterior fontanel Skeletal dysplasia Unilateral cryptorchidism Atresia of the external auditory canal Abnormality of the eye Sparse eyelashes Microtia Conductive hearing impairment Downslanted palpebral fissures Anemia Cryptorchidism Metacarpal synostosis Underdeveloped supraorbital ridges Broad forehead Visual field defect Plagiocephaly Abnormality of eye movement Strabismus Arthralgia Retinal detachment Short stature Short hallux Dumbbell-shaped long bone Upper airway obstruction Short femur Hypoplastic scapulae Femoral bowing Rhizomelia Premature birth Micromelia Narrow chest Bicoronal synostosis Hallux varus Global developmental delay Broad hallux phalanx Aplasia/Hypoplasia of the thumb Osteoarthritis Broad thumb Short foot Short palm Finger syndactyly Low-set ears Enlarged epiphyses Premature osteoarthritis Cleft soft palate Vitreoretinopathy Pierre-Robin sequence Exostoses Arthropathy Abnormal joint morphology Epiphyseal dysplasia Bilateral triphalangeal thumbs



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Pes cavus, related diseases and genetic alterations Myopia and Abnormal cerebellum morphology, related diseases and genetic alterations Edema and Nephrolithiasis, related diseases and genetic alterations Myopathy and Long face, related diseases and genetic alterations Failure to thrive and Oligohydramnios, related diseases and genetic alterations Failure to thrive and Holoprosencephaly, related diseases and genetic alterations

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