Abnormality of the skeletal system, and Oral cleft

Diseases related with Abnormality of the skeletal system and Oral cleft

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


Top matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Low match STICKLER SYNDROME TYPE 2


A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.

Related symptoms:

  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia
  • Retinopathy


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 2

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Other less relevant matches:

Low match HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia as well as a discussion of oligogenicity of this disorder, see {147950}.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Abnormality of the dentition
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA; HH17

Low match CLEFT VELUM


Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.

CLEFT VELUM Is also known as cleft soft palate|cleft velum palatinum

Related symptoms:

  • Cleft soft palate


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CLEFT VELUM

Low match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Low match OROFACIAL CLEFT 10; OFC10


OROFACIAL CLEFT 10; OFC10 Is also known as cleft lip with or without cleft palate, nonsyndromic, 10

Related symptoms:

  • Cleft lip
  • Unilateral cleft lip
  • Unilateral cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 10; OFC10

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 OROFACIAL CLEFT 11; OFC11


Congenital 'healed' cleft lip (CHCL) is an unusual anomaly consisting of a paramedian 'scar' of the upper lip with an appearance suggesting that a typical cleft lip was corrected in utero. The CHCL is frequently associated with an ipsilateral notch in the vermilion border and a 'collapsed' nostril (Castilla and Martinez-Frias, 1995).

OROFACIAL CLEFT 11; OFC11 Is also known as cleft lip with or without cleft palate, nonsyndromic, 11

Related symptoms:

  • Hydrocephalus
  • Cleft lip
  • Oral cleft
  • Facial cleft
  • Single umbilical artery


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 11; OFC11

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Oral cleft

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Cleft lip Uncommon - Between 30% and 50% cases
Bifid uvula Rare - less than 30% cases
Abnormality of the dentition Rare - less than 30% cases
Cleft upper lip Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Unilateral cleft lip Patent ductus arteriosus Autistic behavior Hypermetropia Thin vermilion border Coarctation of aorta Hydrocephalus Facial cleft Atrial septal defect Ankyloglossia Absent uvula Submucous cleft soft palate Nasal, dysarthic speech Unilateral cleft palate Cryptorchidism Feeding difficulties Hearing impairment Cataract Myopia Retinopathy Corneal opacity Retinal detachment Abnormal vitreous humor morphology Hypogonadism Strabismus Anosmia Cleft soft palate Intellectual disability Global developmental delay Short stature Generalized hypotonia Microcephaly Single umbilical artery



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