Cleft palate, and High palate

Diseases related with Cleft palate and High palate

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


Top matches:

Medium 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

Medium 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

Medium match HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6


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
  • Cryptorchidism
  • High palate


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA; HH6

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Other less relevant matches:

Medium match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Medium match NEMALINE MYOPATHY 9; NEM9


Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Medium match NEU-LAXOVA SYNDROME 2; NLS2


Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (OMIM ).

Related symptoms:

  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about NEU-LAXOVA SYNDROME 2; NLS2

Medium match RAPADILINO SYNDROME


RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Cleft palate
  • High palate


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPADILINO SYNDROME

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

Medium match ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS


ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS Is also known as scott-taor syndrome|sps|ischiopatellar dysplasia|patella aplasia, coxa vara, and tarsal synostosis|small patella syndrome|coxopodopatellar syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate


SOURCES: MESH OMIM MENDELIAN

More info about ISCHIOCOXOPODOPATELLAR SYNDROME; ICPPS

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

Top 5 symptoms//phenotypes associated to Cleft palate and High palate

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Microcephaly Low-set ears Short neck Abnormal facial shape Abnormality of the pinna Short chin Cleft upper lip Patellar hypoplasia Aplasia/Hypoplasia of the patella Thick eyebrow Respiratory insufficiency Patellar aplasia Muscle weakness Primary amenorrhea Generalized hypotonia Feeding difficulties Hypertension Tarsal synostosis Sandal gap Coxa vara Abnormality of epiphysis morphology Pulmonary arterial hypertension Hip dysplasia Carious teeth Pes planus Prominent forehead Abnormality of the skeletal system Bilateral conductive hearing impairment Pain Short femur Increased number of teeth Flat occiput Brittle hair Long eyelashes Bifid uvula Single transverse palmar crease Highly arched eyebrow Sensorineural hearing impairment Autistic behavior Conductive hearing impairment Patellar dislocation Iliac horns Flat capital femoral epiphysis Acne Aplasia of the vagina Facial hirsutism Increased serum testosterone level Frontal balding Abnormal vagina morphology Aplasia of the uterus Shield chest Abnormality of the ovary High anterior hairline Hypoplasia of the uterus Unilateral renal agenesis Cubitus valgus Brachycephaly Amenorrhea Renal agenesis Hirsutism Synophrys Short philtrum Protruding ear Obesity Brachydactyly Wide capital femoral epiphyses Hypoplasia of the lesser trochanter Talocalcaneal synostosis Autism Epicanthus Intellectual disability, mild Breech presentation Hypogonadotrophic hypogonadism Proptosis Edema Anosmia Intrauterine growth retardation Hyposmia Hypertelorism Growth delay Small pituitary gland Progressive distal muscle weakness Fetal akinesia sequence Sloping forehead Akinesia Narrow chest Arthrogryposis multiplex congenita Distal muscle weakness Myopathy Ventricular septal defect Flexion contracture Limb muscle weakness Facial palsy Ptosis Dysphagia Ichthyosis Decreased fetal movement Fatigue Aplasia/Hypoplasia of the radius Depressed nasal bridge Anemia Global developmental delay Intellectual disability Stiff interphalangeal joints Slender nose Mottled pigmentation Cryptorchidism Delayed skeletal maturation Hypogonadism Absent radius Absent thumb Depressed nasal ridge Hypoplasia of the radius Narrow palpebral fissure Joint dislocation Micropenis High, narrow palate Long face Blepharophimosis Diarrhea Cleft lip Abnormal cortical gyration Rocker bottom foot Aplasia/Hypoplasia of the fallopian tube



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