Cleft palate, and Microtia

Diseases related with Cleft palate and Microtia

In the following list you will find some of the most common rare diseases related to Cleft palate and Microtia that can help you solving undiagnosed cases.


Top matches:

Medium match BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME


This syndrome is characterized by the association of bilateral microtia with severe to profound hearing impairment, and cleft palate.

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Abnormality of the pinna
  • Microtia
  • Abnormality of the outer ear


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BILATERAL MICROTIA-DEAFNESS-CLEFT PALATE SYNDROME

Medium match MICROTIA


Microtia is a congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia (see this term), where there is a complete absence of the external ear and of the auditory canal.

Related symptoms:

  • Hearing impairment
  • Cleft palate
  • Microtia
  • Small for gestational age
  • Holoprosencephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROTIA

Medium match 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 ).

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

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Other less relevant matches:

Medium 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

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

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 ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE; AFDCIN


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

Medium 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

Medium match DIAMOND-BLACKFAN ANEMIA 10; DBA10


Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

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

Top 5 symptoms//phenotypes associated to Cleft palate and Microtia

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Conductive hearing impairment Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Atresia of the external auditory canal Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cleft palate and Microtia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Mixed hearing impairment Mandibulofacial dysostosis Midface retrusion Macrocytic anemia Short stature Choanal atresia Facial asymmetry Sensorineural hearing impairment Anemia Abnormality of the pinna Low-set ears

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Webbed neck Hernia Congenital diaphragmatic hernia Severe sensorineural hearing impairment Broad neck Patent ductus arteriosus Retrognathia Ventricular septal defect Respiratory distress Anotia Bilateral conductive hearing impairment Coloboma Abnormality of the outer ear Stiff neck Macrocephaly Scoliosis Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Ectopic kidney Limited neck range of motion Jaundice Respiratory insufficiency Intrauterine growth retardation Abnormality of cardiovascular system morphology Failure to thrive Growth delay Dilatated internal auditory canal Morphological abnormality of the middle ear Branchial anomaly Hypoplasia of the cochlea Cochlear malformation Lip pit Tracheobronchomalacia Short neck Cleft upper lip Mild conductive hearing impairment Relative macrocephaly Fused cervical vertebrae External ear malformation Sprengel anomaly Posterior fossa cyst Congenital muscular torticollis Vertebral fusion Rocker bottom foot Unilateral renal agenesis Abnormality of the inner ear Abnormal vertebral segmentation and fusion Bimanual synkinesia Abnormality of the genitourinary system Low posterior hairline Abnormality of the ribs Cervical C2/C3 vertebral fusion Moderate hearing impairment Otitis media Intestinal malrotation Abnormality of limb bone morphology Decreased cervical spine mobility Branchial fistula Decreased head circumference Branchial cyst Sparse eyelashes Sparse eyebrow Sparse and thin eyebrow Bifid uvula Epicanthus Feeding difficulties Abnormal facial shape Global developmental delay Intellectual disability Unilateral cryptorchidism Cryptorchidism Granulocytopenia Choanal stenosis Lower eyelid coloboma Maternal diabetes Holoprosencephaly Small for gestational age Underdeveloped antitragus Profound hearing impairment Facial paralysis Overfolded helix Submucous cleft hard palate Microcephaly Body odor Apnea Abnormal nasolacrimal system morphology Upper airway obstruction Obstructive sleep apnea Glossoptosis Preauricular pit Cupped ear Laryngomalacia Sleep apnea Preauricular skin tag Abnormality of the kidney Macrotia Facial palsy Pretragal ectopia Bilateral choanal atresia Broad finger Acetabular dysplasia Femoral bowing Flared metaphysis Decreased body weight Hypoplasia of the maxilla Thick vermilion border Cervicomedullary schisis



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