Abnormality of the skeletal system, and Bifid uvula

Diseases related with Abnormality of the skeletal system and Bifid uvula

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


Top matches:

Low 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

Low 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

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Other less relevant matches:

Low match CATARACT 21, MULTIPLE TYPES; CTRCT21


Mutations in the MAF gene have been found to cause multiple types of cataract, which have been described as cortical pulverulent, lamellar, nuclear, nuclear pulverulent, nuclear stellate, anterior polar, anterior subcapsular, posterior subcapsular, and cerulean. In some cases, the cataracts are of juvenile onset.The preferred title of this entry was formerly 'Cataract, Pulverulent, Juvenile-Onset,' with an 'Included' title/symbol of 'Cataract, Congenital, Cerulean Type, 4; CCA4.'

CATARACT 21, MULTIPLE TYPES; CTRCT21 Is also known as cataract, congenital, cerulean type, 4|cataract, pulverulent, juvenile-onset|cca4|cataract 21, multiple types, with or without microcornea

Related symptoms:

  • Cataract
  • Delayed speech and language development
  • Atrial septal defect
  • Microphthalmia
  • Autism


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT 21, MULTIPLE TYPES; CTRCT21

Low 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

Low match JOUBERT SYNDROME 30; JBTS30


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ptosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 30; JBTS30

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Bifid uvula

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

Patients with Abnormality of the skeletal system and Bifid uvula. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Submucous cleft hard palate

Rare Symptoms - Less than 30% cases


Pes planus Postaxial polydactyly Iris coloboma Microphthalmia Delayed speech and language development Cataract Scoliosis Cognitive impairment Depressed nasal bridge Abnormal heart morphology Hematuria Horseshoe kidney Elevated serum creatinine Gout Hyperuricemia Median cleft lip Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Renal cyst Neutropenia Postnatal growth retardation Nephropathy Cryptorchidism Abnormality of the kidney Proteinuria Recurrent infections Dilatation Postaxial foot polydactyly Intrauterine growth retardation Hypertension Anemia Growth delay Lymphadenitis Velopharyngeal insufficiency Visual loss Blindness Abdominal wall muscle weakness Frontal bossing Agenesis of corpus callosum Hypertelorism Cleft upper lip Hypoplasia of the olfactory bulb Abnormality of the midface Absent nares Single naris Failure of eruption of permanent teeth Postaxial hand polydactyly Hyposmia Ventricular septal defect Misalignment of teeth External genital hypoplasia Anophthalmia Aganglionic megacolon Recurrent viral infections Anosmia Gynecomastia Amblyopia Hypoplasia of penis Hypogonadism Inguinal hernia Periorbital edema Clinodactyly Episodic fever Autism Abnormality of the skin Kyphosis Pain Cortical pulverulent cataract Cerulean cataract Macular hypoplasia Microcornea Retinal detachment Congenital cataract Coloboma Autistic behavior Atrial septal defect Recurrent otitis media Abnormally large globe Flat occiput Thin vermilion border Syndactyly Long philtrum Anteverted nares Nasal, dysarthic speech Submucous cleft soft palate Cleft lip Absent uvula Ankyloglossia Otitis media Heparan sulfate excretion in urine Combined immunodeficiency Hypopituitarism Vasculitis Subcutaneous nodule Inflammatory abnormality of the skin Everted lower lip vermilion Autoimmunity Scarring Thrombocytopenia Immunodeficiency Edema Fever Brachydactyly Molar tooth sign on MRI Abnormality of the acetabulum Optic nerve hypoplasia Tachypnea Heterotopia Dandy-Walker malformation Retinal dystrophy Abnormality of eye movement Abnormality of the eye Apnea Ptosis Keratan sulfate excretion in urine Foot pain Lobulated tongue



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