Cleft palate, and Bifid uvula

Diseases related with Cleft palate and Bifid uvula

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


Top matches:

Medium match BIFID UVULA


Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.

BIFID UVULA Is also known as bifidity of the uvula|uvula, cleft|uvular cleft

Related symptoms:

  • Cleft lip
  • Bifid uvula
  • Submucous cleft soft palate
  • Nasal, dysarthic speech


SOURCES: OMIM ORPHANET MENDELIAN

More info about BIFID UVULA

Medium match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44; MRT44

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9


MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

Medium match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Medium match HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME


This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME Is also known as bosma arhinia-microphthalmia syndrome|bosma-henkin-christiansen syndrome

Related symptoms:

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia


SOURCES: ORPHANET MENDELIAN

More info about HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME

Medium match OROFACIODIGITAL SYNDROME TYPE 5


Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).

OROFACIODIGITAL SYNDROME TYPE 5 Is also known as polydactyly postaxial with median cleft of upper lip|oral-facial-digital syndrome type 5|polydactyly, postaxial, with median cleft of upper lip|oral-facial-digital syndrome, type v|thurston syndrome|ofd5|orofaciodigital syndrome, thurston type|ofds v

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Frontal bossing


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 5

Medium match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Medium match POPLITEAL PTERYGIUM SYNDROME; PPS


POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies|faciogenitopopliteal syndrome

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about POPLITEAL PTERYGIUM SYNDROME; PPS

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

Top 5 symptoms//phenotypes associated to Cleft palate and Bifid uvula

Symptoms // Phenotype % cases
Submucous cleft hard palate Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Intellectual disability, mild Postaxial polydactyly Cleft upper lip Abnormal heart morphology Hypertelorism Cryptorchidism Polydactyly Anemia Scoliosis Ventricular septal defect Flat occiput Syndactyly Cleft lip Cognitive impairment Scrotal hypoplasia Spina bifida occulta Abnormality of the genital system Overgrowth Pterygium Pulmonary artery atresia Dementia Talipes equinovarus Abnormality of the skeletal system Flexion contracture Anomalous origin of one pulmonary artery from ascending aorta Aortopulmonary window Complete atrioventricular canal defect Toe syndactyly Truncus arteriosus Maternal diabetes Double outlet right ventricle Hypoparathyroidism Transposition of the great arteries Broad hallux Nasal speech Hypocalcemia Short palpebral fissure Coarctation of aorta Tetralogy of Fallot Abnormal cardiac septum morphology Narrow mouth Severe short stature Abnormality of metabolism/homeostasis Bifid scrotum Cutaneous finger syndactyly Hypoplasia of the uterus Low-set ears Increased number of teeth Brittle hair Long eyelashes Single transverse palmar crease Highly arched eyebrow Thick eyebrow Autistic behavior Abnormality of the pinna Conductive hearing impairment Autism Brachycephaly Epicanthus Motor delay High palate Microcephaly Ankyloglossia Hypoplasia of the vagina Bilateral cleft lip Bilateral cleft lip and palate Hypoplastic labia majora Labial hypoplasia Ankyloblepharon Popliteal pterygium Abnormality of the scrotum Hearing impairment Lower lip pit Fibrous syngnathia Absent scrotum Intercrural pterygium Pyramidal skinfold extending from the base to the top of the nails Generalized hypotonia Abnormality of cardiovascular system morphology Postaxial foot polydactyly Lobulated tongue Dilatation Hyperuricemia Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Renal cyst Neutropenia Hematuria Nephropathy Postnatal growth retardation Abnormality of the kidney Proteinuria Anteverted nares Recurrent infections Intrauterine growth retardation Elevated serum creatinine Hypertension Long philtrum Growth delay Keratan sulfate excretion in urine Foot pain Abnormality of the acetabulum Heparan sulfate excretion in urine Recurrent otitis media Otitis media Abnormality of the skin Kyphosis Pain Pes planus Abnormally large globe Gout Velopharyngeal insufficiency Thin vermilion border Failure of eruption of permanent teeth Median cleft lip Horseshoe kidney Aganglionic megacolon Postaxial hand polydactyly Absent uvula Agenesis of corpus callosum Submucous cleft soft palate Nasal, dysarthic speech Frontal bossing Seizures Hypoplasia of the olfactory bulb Abnormality of the midface Absent nares Single naris Abdominal wall muscle weakness Cataract Hyposmia Misalignment of teeth External genital hypoplasia Anophthalmia Anosmia Gynecomastia Amblyopia Hypoplasia of penis Iris coloboma Hypogonadism Inguinal hernia Visual loss Microphthalmia Blindness Bilateral conductive hearing impairment



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Abdominal pain, related diseases and genetic alterations Delayed speech and language development and Hip dysplasia, related diseases and genetic alterations Epicanthus and Agenesis of corpus callosum, related diseases and genetic alterations Immunodeficiency and Microdontia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more