Epicanthus, and Conductive hearing impairment

Diseases related with Epicanthus and Conductive hearing impairment

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


Top matches:

Medium match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Medium 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

Medium match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3


Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3

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Other less relevant matches:

Medium match ABRUZZO-ERICKSON SYNDROME


Abruzzo-Erickson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis.

ABRUZZO-ERICKSON SYNDROME Is also known as cleft palate-coloboma-deafness syndrome|charge-like syndrome|charge-like syndrome, x-linked

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ABRUZZO-ERICKSON SYNDROME

Medium match FRONTORHINY


Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.

FRONTORHINY Is also known as frontonasal dysplasia type 1|isolated median cleft face syndrome|alx3-related frontonasal dysplasia

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about FRONTORHINY

Medium match FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS


Fanconi anemia complementation group S is an autosomal recessive disorder characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features. Laboratory studies show defective DNA repair and increased chromosomal breakage during stress. Some patients may have radial ray anomalies, anemia, and increased risk of cancer; patients often have a family history of cancer in family members who have heterozygous mutations (summary by Freire et al., 2018).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP S; FANCS

Medium match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Medium match NATIVE AMERICAN MYOPATHY


Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Medium match FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME


Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.

FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME Is also known as alx1-related frontonasal dysplasia|frontonasal dysplasia type 3

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA-SEVERE MICROPHTHALMIA-SEVERE FACIAL CLEFTING SYNDROME

Medium match ACRO-RENAL-OCULAR SYNDROME


Acro-renal-ocular syndrome (AROS) is a syndrome of multiple congenital anomalies and is characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Related symptoms:

  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about ACRO-RENAL-OCULAR SYNDROME

Top 5 symptoms//phenotypes associated to Epicanthus and Conductive hearing impairment

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Global developmental delay Strabismus Abnormal facial shape Ptosis Low-set ears Microphthalmia Brachydactyly Sensorineural hearing impairment Cataract Cryptorchidism Growth delay Posteriorly rotated ears Iris coloboma Scoliosis Brachycephaly Intellectual disability, mild Anemia Motor delay

Rare Symptoms - Less than 30% cases


Bifid uvula Immunodeficiency Recurrent infections Hypospadias Long eyelashes Flat face Blepharophimosis Coarse facial features Coloboma Toe syndactyly Upslanted palpebral fissure Talipes Microcornea Tetralogy of Fallot Chorioretinal coloboma Short palpebral fissure High palate Generalized hypotonia Low-set, posteriorly rotated ears Camptodactyly of finger Hypoplasia of the maxilla Lipoma of corpus callosum Cranium bifidum occultum Preauricular skin tag Finger clinodactyly Intrauterine growth retardation Respiratory tract infection Nystagmus Malar flattening Visual impairment Widow's peak Midface retrusion Granulocytopenia Sparse eyebrow Wide nasal bridge Micrognathia Feeding difficulties Downslanted palpebral fissures Long face Downturned corners of mouth Generalized muscle weakness Narrow forehead Pulmonary fibrosis Muscle weakness Fair hair Interstitial pneumonitis Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Open mouth Tented upper lip vermilion Acetabular dysplasia Cognitive impairment Abnormality of the foot Ventriculomegaly Ocular albinism Pectus excavatum Kyphosis Areflexia Myopathy Respiratory insufficiency Hyporeflexia Kyphoscoliosis Proximal muscle weakness Periodontitis Telecanthus Albinism Abnormality of the skeletal system Facial palsy Arthrogryposis multiplex congenita Skeletal muscle atrophy Fever Flexion contracture Congenital contracture Facial cleft Gowers sign Short humerus Short thumb Horseshoe kidney Sandal gap Renal hypoplasia/aplasia Triphalangeal thumb Preaxial hand polydactyly Hypoplasia of the ulna Vertebral segmentation defect Vertebral fusion Aplasia/Hypoplasia of the radius Vesicoureteral reflux Short hallux Optic nerve coloboma Broad hallux phalanx Abnormality of the thumb Bladder diverticulum Optic disc hypoplasia Abnormality of the radius Radial club hand Crossed fused renal ectopia Short distal phalanx of the thumb Aganglionic megacolon Finger syndactyly Myopathic facies Sparse eyelashes Ankle contracture Malignant hyperthermia Restrictive deficit on pulmonary function testing Multiple skeletal anomalies Hypoplasia of the corpus callosum Agenesis of corpus callosum Cleft lip Underdeveloped nasal alae Recurrent pneumonia Absent eyebrow Postnatal growth retardation Hip dysplasia Eyelid coloboma Bifid nose Wide nasal base Upper eyelid coloboma Caudal appendage Prominent glabella Hypoplasia of the frontal bone Pectoral muscle hypoplasia/aplasia Aplasia/Hypoplasia of the frontal sinuses Recurrent bacterial infections Hypopigmentation of the skin Neutropenia Abnormality of the dentition Short nose Polydactyly Decreased antibody level in blood Recurrent upper respiratory tract infections Agammaglobulinemia Tapetoretinal degeneration Hypoplastic ischia Atrial septal defect Macrotia Broad neck Protruding ear Facial asymmetry Choanal atresia Short toe Abnormal palate morphology Radioulnar synostosis Ulnar deviation of finger Abnormal localization of kidney Dimple chin Mandibulofacial dysostosis Severe sensorineural hearing impairment Lumbar hyperlordosis Flat occiput Depressed nasal bridge Autism Abnormality of the pinna Autistic behavior Thick eyebrow Highly arched eyebrow Single transverse palmar crease Brittle hair Increased number of teeth Submucous cleft hard palate Bilateral conductive hearing impairment Respiratory distress Hernia Microtia Webbed neck Congenital diaphragmatic hernia Sparse and thin eyebrow Mixed hearing impairment Macrocytic anemia Coronal hypospadias Encephalocele Smooth philtrum Splenomegaly Ovarian neoplasm Chromosome breakage Thick upper lip vermilion Stomach cancer Macrodontia Duodenal stenosis Ovarian carcinoma Hepatomegaly Long philtrum Breast carcinoma Thrombocytopenia Pneumonia Recurrent respiratory infections Reduced visual acuity Retrognathia Hepatosplenomegaly Thin upper lip vermilion Photophobia Carious teeth Proximal placement of thumb Narrow palate Aplasia/Hypoplasia of the corpus callosum Neoplasm Diabetes insipidus Hypopituitarism Bifid tongue Hypoplastic frontal sinuses Dermoid cyst Congenital conductive hearing impairment Midline nasal groove Basal encephalocele Failure to thrive Bone marrow hypocellularity Delayed speech and language development Anteverted nares Clinodactyly Carcinoma Sparse hair Prominent nasal bridge Hip dislocation Dental malocclusion Low anterior hairline Renal malrotation



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