Cleft palate, and Midface retrusion

Diseases related with Cleft palate and Midface retrusion

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


Top matches:

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 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 POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME


Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination.

POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME Is also known as pallister-hall syndrome 2, formerly|culler-jones syndrome|phs2, formerly

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY-ANTERIOR PITUITARY ANOMALIES-FACIAL DYSMORPHISM SYNDROME

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Other less relevant matches:

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 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 ATELOSTEOGENESIS TYPE III


Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

ATELOSTEOGENESIS TYPE III Is also known as aoiii|ao3|atelosteogenesis type 3

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS TYPE III

Medium match ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME


Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.

ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME Is also known as eco syndrome

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ENDOCRINE-CEREBRO-OSTEODYSPLASIA SYNDROME

Medium match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Top 5 symptoms//phenotypes associated to Cleft palate and Midface retrusion

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Glossoptosis Depressed nasal bridge Cleft lip Low-set ears Short stature Microtia Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


High myopia Pierre-Robin sequence Retinal detachment Rhizomelia Exostoses Sparse eyelashes Micromelia Polydactyly Conductive hearing impairment Micropenis Cleft upper lip Oral cleft Postaxial polydactyly Frontal bossing Brachydactyly Mandibulofacial dysostosis Holoprosencephaly Global developmental delay Femoral bowing Sandal gap Pectus excavatum Macrocytic anemia Epicanthus Hernia Pectus carinatum Osteoarthritis Hypoplasia of the maxilla Arthralgia Sparse eyebrow Microphallus Bifid uvula Anemia Anteverted nares Myopia Arthropathy Tibial bowing Prominent occiput Elbow dislocation Retrognathia Disproportionate short-limb short stature Acetabular dysplasia Thick vermilion border Patent ductus arteriosus Choanal atresia Decreased body weight Flared metaphysis Anotia Broad finger Skeletal dysplasia Bilateral choanal atresia Decreased head circumference Pretragal ectopia Scoliosis Talipes equinovarus Short neck Macrotia Severe short stature Tombstone-shaped proximal phalanges Radial bowing Long philtrum Depressed nasal tip Barrel-shaped chest Shield chest Ulnar deviation of the hand Ulnar deviation of the hand or of fingers of the hand Cataract Glaucoma Scrotal hypoplasia Retinopathy Arachnodactyly Joint hypermobility Mitral valve prolapse Spondyloepiphyseal dysplasia Long fingers Abnormal vitreous humor morphology Adrenal hypoplasia Aplasia/Hypoplasia of the corpus callosum Flat acetabular roof Abnormality of the skeletal system Knee dislocation Cervical kyphosis Hitchhiker thumb Horizontal sacrum Cervical segmentation defect Widened distal phalanges Wide nasal bridge Ventriculomegaly Ambiguous genitalia Hydrocephalus Syndactyly Hypospadias Agenesis of corpus callosum Deeply set eye Abnormality of the pinna Wide intermamillary distance Microcephaly Narrow chest Granulocytopenia Agenesis of lateral incisor Diabetes insipidus Bilateral cryptorchidism Depressed nasal ridge Hypotelorism Growth hormone deficiency Abdominal pain Hypogonadism Delayed skeletal maturation Pain Growth delay Seizures Hyponasal speech Palate fistula Bilateral cleft palate Hypopituitarism Euryblepharon Ectropion of lower eyelids High anterior hairline Bilateral cleft lip and palate Bilateral cleft lip Ectropion Single transverse palmar crease Bulbous nose Protruding ear Upslanted palpebral fissure Hypertelorism Unilateral cryptorchidism Atresia of the external auditory canal High pitched voice Poor appetite Broad neck Hypoplastic scapulae Severe sensorineural hearing impairment Submucous cleft hard palate Mixed hearing impairment Sparse and thin eyebrow Congenital diaphragmatic hernia Webbed neck Posteriorly rotated ears Respiratory distress Feeding difficulties Intellectual disability Dumbbell-shaped long bone Upper airway obstruction Short femur Metaphyseal widening Panhypopituitarism Premature birth Proptosis Enlarged epiphyses Premature osteoarthritis Cleft soft palate Vitreoretinopathy Abnormal joint morphology Epiphyseal dysplasia Platyspondyly Abnormality of the eye Ectopic posterior pituitary Bilateral postaxial polydactyly Anterior pituitary hypoplasia Adrenocorticotropic hormone deficiency Abnormal metacarpal morphology



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