Cleft palate, and Protruding ear

Diseases related with Cleft palate and Protruding ear

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


Top matches:

Medium match OROFACIAL CLEFT 15; OFC15


Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cryptorchidism
  • Low-set ears
  • Epicanthus


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 15; OFC15

Medium 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

Medium match MÜLLERIAN APLASIA AND HYPERANDROGENISM


Deficiency of the glycoprotein WNT4, associated with loss of function mutation(s) in the WNT4 gene. The condition in 46,XX individuals is characterized by mild hyperandrogenism, absence or underdevelopment of the uterus, and sometimes absence or underdevelopment of the vagina.

MÜLLERIAN APLASIA AND HYPERANDROGENISM Is also known as wnt4 deficiency|mÜllerian duct failure and hyperandrogenism|mullerian duct failure and hyperandrogenism

Related symptoms:

  • Short stature
  • Cleft palate
  • High palate
  • Brachydactyly
  • Short neck


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MÜLLERIAN APLASIA AND HYPERANDROGENISM

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Other less relevant matches:

Medium match HOLOPROSENCEPHALY 7; HPE7


Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about HOLOPROSENCEPHALY 7; HPE7

Medium match CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME


Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME Is also known as oculootofacial dysplasia|burn-mckeown syndrome|oofd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOANAL ATRESIA-HEARING LOSS-CARDIAC DEFECTS-CRANIOFACIAL DYSMORPHISM SYNDROME

Medium match AURICULOCONDYLAR SYNDROME


Auriculo-condylar syndrome (ACS) presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.

AURICULOCONDYLAR SYNDROME Is also known as question mark ear syndrome|question mark ears syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME

Medium match RICHIERI COSTA-PEREIRA SYNDROME


Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.

RICHIERI COSTA-PEREIRA SYNDROME Is also known as short stature-pierre robin syndrome-cleft mandible-hand anomalies clubfoot syndrome|richieri-costa-pereira syndrome|rcps|short stature-pierre robin sequence-cleft mandible-hand anomalies clubfoot syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RICHIERI COSTA-PEREIRA SYNDROME

Medium match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22


Chromosome 1q43-q44 deletion syndrome is characterized by moderate to severe mental retardation, limited or no speech, and variable but characteristic facial features, including round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, and low-set ears. Other features may include hypotonia, poor growth, microcephaly, agenesis of the corpus callosum, and seizures. The phenotype is variable, and not all features are observed in all patients, which may be explained in some cases by incomplete penetrance or variable expressivity (summary by Ballif et al., 2012).Patients with autosomal dominant mental retardation-22 have a phenotype similar to that in patients with chromosome 1q43-q44 deletion syndrome (de Munnik et al., 2014).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 22; MRD22

Medium match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Protruding ear

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Bifid uvula Uncommon - Between 30% and 50% cases
Short nose Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Hearing impairment Hypertelorism Feeding difficulties Wide nasal bridge Short philtrum Cryptorchidism Microcephaly Preauricular skin tag Abnormality of the pinna Epicanthus Prominent nose High palate Cleft lip Narrow mouth Abnormal facial shape

Rare Symptoms - Less than 30% cases


Hydrocephalus Brachydactyly External ear malformation Amenorrhea Primary amenorrhea Intellectual disability, severe Intellectual disability Seizures Microretrognathia Renal dysplasia Macrocephaly Growth delay Agenesis of corpus callosum Sensorineural hearing impairment Thin upper lip vermilion Short palpebral fissure Smooth philtrum Iris coloboma Generalized hypotonia Renal hypoplasia Thin vermilion border Abnormality of the outer ear Round face Respiratory distress Dental malocclusion Partial agenesis of the corpus callosum Highly arched eyebrow Microphthalmia Lower eyelid coloboma Upslanted palpebral fissure High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Alopecia Conductive hearing impairment Coloboma Sparse eyebrow Facial asymmetry Sparse eyelashes Dental crowding Cupped ear Hypoplasia of the maxilla Hernia Midface retrusion Eyelid coloboma Stenosis of the external auditory canal Glossoptosis Hypoplasia of the epiglottis Radial deviation of the hand Mandibular condyle hypoplasia Abnormality of the voice Absent foot Question mark ear Proximal placement of thumb Hemivertebrae Aganglionic megacolon Hypoplasia of the ulna Bilateral talipes equinovarus Hip subluxation Mesomelia Abnormality of the temporomandibular joint Fibular hypoplasia Pierre-Robin sequence Short tibia Abnormality of the larynx Acetabular dysplasia Postaxial hand polydactyly Plagiocephaly Hypoplasia of first ribs Abnormality of the hand Webbed neck Cleft helix Abnormality of the crus of the helix Postauricular skin tag Talipes equinovarus Abnormality of brain morphology Clinodactyly of the 5th finger Optic nerve hypoplasia Hip dislocation Short metacarpal Limb undergrowth Cleft at the superior portion of the pinna Short phalanx of finger Short thumb Decreased testicular size Vein of Galen aneurysmal malformation Hoarse voice Aplasia/Hypoplasia of the external ear Periauricular skin pits Mandibular condyle aplasia Hypoplasia of the radius Tibial deviation of toes Cleft mandible Aplasia of the epiglottis Absent speech Long upper lip Prominent nasal tip Spasticity Delayed speech and language development Depressed nasal bridge Motor delay Hypoplasia of the corpus callosum Bruxism Dystonia Long philtrum Prominent forehead Failure to thrive Deeply set eye Telecanthus Muscular hypotonia of the trunk Small for gestational age Neurological speech impairment Wide nose Downturned corners of mouth Prominent metopic ridge Wide intermamillary distance Absence seizures Long nose Scoliosis Intrauterine growth retardation Agenesis of mandibular central incisor Hypohidrosis Pansynostosis Abnormality of the aryepiglottic fold Cleft lower alveolar ridge Widely spaced teeth Syndactyly Hypogonadism Camptodactyly Hypodontia Ectodermal dysplasia Nail dysplasia Split hand Joint contracture of the hand Anterior open-bite malocclusion Convex nasal ridge Hypergonadotropic hypogonadism Hallux valgus Gonadal dysgenesis Hypoplastic nipples Vesicoureteral reflux Ichthyosis Hypotrichosis Ectrodactyly Split foot Lacrimal duct atresia Hypoplastic superior helix Narrow palpebral fissure Overfolding of the superior helices Aplasia/Hypoplasia of the fallopian tube Unilateral renal agenesis Hypoplasia of the uterus Abnormality of the ovary Shield chest Aplasia of the uterus Abnormal vagina morphology Frontal balding Increased serum testosterone level Facial hirsutism Aplasia of the vagina Frontal bossing Cubitus valgus Anteverted nares Macrotia Broad forehead Oral cleft Hypotelorism Omphalocele Holoprosencephaly Flat occiput Median cleft lip Depressed nasal tip Acne Renal agenesis Panhypopituitarism Depressivity Bulbous nose Single transverse palmar crease Ectropion Ectropion of lower eyelids Euryblepharon Bilateral cleft palate Agenesis of lateral incisor Palate fistula Hyponasal speech Abnormality of the dentition Everted lower lip vermilion Hirsutism Sparse and thin eyebrow Bicuspid aortic valve Preauricular pit Hydroureter Trismus Mandibulofacial dysostosis Delayed eruption of primary teeth Short neck Obesity Synophrys Thick eyebrow Broad face Bilateral microphthalmos Speech articulation difficulties Low-set, posteriorly rotated ears Mixed hearing impairment Hypomimic face Secundum atrial septal defect Unilateral cleft lip Median cleft palate Bilateral choanal atresia Bilateral choanal atresia/stenosis Ptosis Downslanted palpebral fissures Posteriorly rotated ears Apnea Abnormality of vision Full cheeks Atresia of the external auditory canal Facial cleft Ankylosis Obstructive sleep apnea Microglossia Impaired mastication Hamartoma of tongue Snoring Difficulty in tongue movements 2-3 toe syndactyly Abnormal palate morphology Median cleft lip and palate Atrial septal defect Single median maxillary incisor Midline defect of the nose Parietal bossing Semilobar holoprosencephaly Alobar holoprosencephaly Hypoplasia of the premaxilla Absent nasal septal cartilage Fusion of the left and right thalami Flat nasal alae Ventricular septal defect Malar flattening Choanal atresia Abnormality of metabolism/homeostasis Inguinal hernia Mandibular prognathia Abnormality of the eye Feeding difficulties in infancy Blepharophimosis Abnormal cardiac septum morphology Prominent nasal bridge Anal atresia Cleft upper lip Underdeveloped nasal alae Hypoplasia of the bladder



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