Abnormal facial shape, and Otitis media

Diseases related with Abnormal facial shape and Otitis media

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


Top matches:

Low match OTODENTAL SYNDROME


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

Low match KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1


Klippel-Feil syndrome (KFS) is a congenital anomaly characterized by a defect in the formation or segmentation of the cervical vertebrae, resulting in a fused appearance. The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). Genetic Heterogeneity of Klippel-Feil SyndromeAdditional forms of KFS include autosomal recessive KFS2 (OMIM ), caused by mutation in the MEOX1 gene (OMIM ) on chromosome 17q21, autosomal dominant KFS3 (OMIM ), caused by mutation in the GDF3 gene (OMIM ) on chromosome 12p13, and autosomal recessive KFS4 (OMIM ), caused by mutation in the MYO18B gene (OMIM ) on chromosome 22q12.See also MURCS association (OMIM ), in which Klippel-Feil anomaly is associated with urogenital anomalies.

KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1 Is also known as cervical vertebral fusion, autosomal dominant|kfs

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT; KFS1

Low match COFFIN-SIRIS SYNDROME 7; CSS7


Coffin-Siris syndrome-7 is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails (summary by Vasileiou et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 7; CSS7

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Other less relevant matches:

Low match HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE


Autosomal dominant hyper-IgE recurrent infection syndrome (OMIM ) is a primary immunodeficiency disorder characterized by recurrent Staphylococcus aureus skin abscesses, increased serum IgE, and abnormalities of the connective tissue, skeleton, and dentition (Buckley et al., 1972; Grimbacher et al., 1999).The autosomal recessive form shares hyper-IgE, eosinophilia, and recurrent Staphylococcal infections, but is distinguished from autosomal dominant HIES by the lack of connective tissue and skeletal involvement (Renner et al., 2004).See also TYK2 deficiency (OMIM ), a clinically distinct disease entity that includes characteristic features of both autosomal recessive HIES and mendelian susceptibility to mycobacterial disease (MSMD ) (Minegishi et al., 2006).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE Is also known as hyper-ige syndrome, autosomal recessive|hies, autosomal recessive

Related symptoms:

  • Neoplasm
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE

Low match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C


Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Low match INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME


Skraban-Deardorff syndrome is a neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip (summary by Skraban et al., 2017).

INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME Is also known as intellectual disability with seizures, abnormal gait, and distinctive facial features|skraban-deardorff syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SEIZURES-ABNORMAL GAIT-FACIAL DYSMORPHISM SYNDROME

Low match ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2


Robinow syndrome is a skeletal dysplasia characterized by distinctive facial features, including midface hypoplasia, hypertelorism, a short nose, and a broad mouth, known collectively as 'fetal facies.' Additional features include mesomelic dwarfism, macrocephaly, gingival hypertrophy, dental malocclusion, genital hypoplasia, and brachydactyly (summary by Bunn et al., 2015). Additionally, increased skull bone density and appendicular osteosclerosis are present in patients with DRS2 (White et al., 2015; Bunn et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2

Low match POIKILODERMA WITH NEUTROPENIA


Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or develomental delay and hepato- and/or splenomegaly are additional reported features.

POIKILODERMA WITH NEUTROPENIA Is also known as poikiloderma with neutropenia, clericuzio type|poikiloderma with neutropenia, clericuzio-type

Related symptoms:

  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about POIKILODERMA WITH NEUTROPENIA

Low match LUSCAN-LUMISH SYNDROME; LLS


Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

Low match SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME


Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Otitis media

Symptoms // Phenotype % cases
Recurrent otitis media Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Otitis media. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Generalized hypotonia Brachydactyly Coarse facial features Abnormality of the skeletal system Downslanted palpebral fissures Seizures Severe short stature Delayed speech and language development Micrognathia Macrocephaly Strabismus Hypertelorism Abnormality of the dentition Anteverted nares Sensorineural hearing impairment Wide mouth

Rare Symptoms - Less than 30% cases


Wide nasal bridge Feeding difficulties Clinodactyly Constipation Frontal bossing Prominent forehead Asthma Thin upper lip vermilion Anxiety Midface retrusion High forehead Absent speech Ventriculomegaly Dental malocclusion Overgrowth Limb undergrowth Autism Arnold-Chiari malformation Pneumonia Malar flattening Mandibular prognathia Increased antibody level in blood Failure to thrive Eczema Recurrent infections Abnormality of the ribs Short nose Microphthalmia Long face Cataract Full cheeks Periodontitis Long philtrum Otitis media with effusion Scoliosis Gingival overgrowth Conductive hearing impairment Coloboma Carious teeth Limited elbow movement Hyperkeratosis Respiratory failure Coxa vara Recurrent respiratory infections Skin rash Abnormality of macular pigmentation Alopecia Decreased hip abduction Respiratory tract infection Cutaneous photosensitivity Cough Nail dystrophy Neutropenia Palmoplantar keratoderma Recurrent pneumonia Conjunctivitis Cone dysfunction syndrome Myelodysplasia Atrophic scars Wheezing Blepharitis Osteosarcoma Poikiloderma Subungual hyperkeratosis Narrow greater sacrosciatic notches Mesomelic short stature Splenomegaly Increased bone mineral density Hernia Micropenis Proptosis Skeletal dysplasia Umbilical hernia Cleft lip Camptodactyly Short distal phalanx of finger Tibial torsion Broad thumb Dental crowding Short phalanx of finger Oligodontia Narrow nasal tip Chronic otitis media Mesomelia Thickened calvaria Large central visual field defect Depressed nasal tip Generalized osteosclerosis Narrow naris Triangular mouth Cupped ribs Severe platyspondyly Hydrocephalus Retinal thinning Metaphyseal cupping Enlarged joints Atrial septal defect Photophobia Abnormality of color vision Flared metaphysis Bowing of the legs Metaphyseal irregularity Menstrual irregularities Shyness Advanced ossification of carpal bones Progressive macrocephaly Growth delay Nystagmus Visual impairment Myopia Visual loss Hyperlordosis Tibial bowing Postnatal growth retardation Joint stiffness Nyctalopia Platyspondyly Astigmatism Short palm Retinal dystrophy Short metacarpal Waddling gait Progressive visual loss Bowing of the long bones Metaphyseal widening Cone/cone-rod dystrophy Femoral bowing Short finger Spondylometaphyseal dysplasia Polycystic ovaries Rhizomelia Behavioral abnormality Dilatation Obesity Hyperactivity Aggressive behavior Autistic behavior Attention deficit hyperactivity disorder Generalized tonic-clonic seizures Optic nerve coloboma Ectopia pupillae Hirsutism Pointed chin Slurred speech High hypermetropia Large hands Polyphagia Long nose Syringomyelia Ovoid vertebral bodies Arnold-Chiari type I malformation Beaking of vertebral bodies Retinal atrophy Peripheral visual field loss Iris hypopigmentation Thoracic scoliosis Long foot Macular atrophy Disproportionate short stature High anterior hairline Intellectual disability, progressive Cryptorchidism Posterior fossa cyst Webbed neck Low posterior hairline Abnormality of the genitourinary system Relative macrocephaly Unilateral renal agenesis Rocker bottom foot Mixed hearing impairment Vertebral fusion Sprengel anomaly External ear malformation Fused cervical vertebrae Stiff neck Bimanual synkinesia Congenital muscular torticollis Cleft upper lip Abnormal vertebral segmentation and fusion Cervical C2/C3 vertebral fusion Moderate hearing impairment Abnormality of limb bone morphology Decreased cervical spine mobility Mild conductive hearing impairment Limited neck range of motion Cervicomedullary schisis Abnormal heart morphology Posteriorly rotated ears Feeding difficulties in infancy Craniosynostosis Abnormal cardiac septum morphology Neurological speech impairment Intestinal malrotation Facial asymmetry Thick eyebrow High-frequency hearing impairment Iris coloboma Delayed eruption of teeth Microcornea Hypodontia Ectodermal dysplasia Bilateral sensorineural hearing impairment Hypoplasia of dental enamel Abnormality of dental enamel Progressive hearing impairment Progressive sensorineural hearing impairment Increased number of teeth Ankylosis Taurodontia Retinal coloboma Macrodontia Microtia Pulp stones High-frequency sensorineural hearing impairment Odontoma Lens coloboma Agenesis of premolar Abnormality of the maxilla Abnormality of canine Abnormality of molar morphology Abnormality of the dental pulp Cleft palate Ventricular septal defect Short neck Abnormality of cardiovascular system morphology Abnormality of the pinna Hypermetropia Wide nose Happy demeanor Bronchiolitis Intellectual disability, severe Abnormality of metabolism/homeostasis Cerebral cortical atrophy Severe global developmental delay Bulbous nose Short foot Febrile seizures Obsessive-compulsive behavior Leukocytosis Cellulitis Mild global developmental delay Echolalia Widow's peak Neutrophilia Microcephaly Abnormality of the integument Reduction of neutrophil motility Motor delay Hypoplasia of the corpus callosum Broad nasal tip Broad-based gait Pachygyria Amblyopia Spastic gait Widely spaced teeth Delayed ability to walk Thick upper lip vermilion Sparse lateral eyebrow Hyperplasia of the maxilla Muscular hypotonia Anaphylactic shock Microdontia Eosinophilia Sparse scalp hair Trigonocephaly Broad philtrum Sagittal craniosynostosis Small pituitary gland Neoplasm Anemia Immunodeficiency Hemolytic anemia Inflammatory abnormality of the skin Abnormal lung morphology Sinusitis Meningitis Recurrent bacterial infections Recurrent skin infections Recurrent upper and lower respiratory tract infections Hemiplegia Osteomyelitis Combined immunodeficiency Autoimmune hemolytic anemia Pericarditis Recurrent sinusitis Subarachnoid hemorrhage Atopic dermatitis Recurrent lower respiratory tract infections Esophagitis Recurrent viral infections Recurrent sinopulmonary infections Recurrent fungal infections Cerebral vasculitis Hypoplastic inferior ilia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Gynecomastia, related diseases and genetic alterations Macrocephaly and Osteopenia, related diseases and genetic alterations Brachydactyly and Lissencephaly, related diseases and genetic alterations Peripheral neuropathy and Abnormality of the ribs, related diseases and genetic alterations Cleft palate and Intellectual disability, profound, related diseases and genetic alterations Seizures and Skin rash, related diseases and genetic alterations

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