Cleft palate, and Vertigo

Diseases related with Cleft palate and Vertigo

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


Top matches:

Medium 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

Medium match NAXOS DISEASE


Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.

NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo

Related symptoms:

  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Arrhythmia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NAXOS DISEASE

Medium 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

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Other less relevant matches:

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match CORNELIA DE LANGE SYNDROME 1; CDLS1


The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Low match DOPAMINE BETA-HYDROXYLASE DEFICIENCY


Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Low match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match CONGENITAL CONTRACTURAL ARACHNODACTYLY


Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.

CONGENITAL CONTRACTURAL ARACHNODACTYLY Is also known as distal arthrogryposis type 9|cca syndrome|contractural arachnodactyly, congenital|beals syndrome|beals-hecht syndrome|cca

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Micrognathia
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL CONTRACTURAL ARACHNODACTYLY

Low match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE


Ehlers-Danlos syndrome, hypermobility type (HT-EDS) is the most frequent form of EDS (see this term), a group of hereditary connective tissue diseases, and is characterized by joint hyperlaxity, mild skin hyperextensibility, tissue fragility and extra-musculoskeletal manifestations.

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as benign joint hypermobility syndrome|ehlers-danlos syndrome, hypermobile type|ht-eds|ehlers-danlos syndrome, type iii|benign hypermobility syndrome|ehlers-danlos syndrome type 3|eds iii|eds3|bjhs

Related symptoms:

  • Scoliosis
  • Pain
  • Ptosis
  • Epicanthus
  • Fatigue


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

Low match ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

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

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Vomiting Generalized hypotonia Abnormal heart morphology Arrhythmia Dilatation Intellectual disability Hypertrophic cardiomyopathy Global developmental delay Umbilical hernia Flexion contracture Hypertelorism Joint laxity Abnormality of the dentition Inguinal hernia Elbow flexion contracture Hearing impairment Hip dislocation Sensorineural hearing impairment Syncope Cardiomyopathy Seizures Pain Aortic root aneurysm Congestive heart failure Atrial septal defect Keratoconus Headache Hypertension Muscular hypotonia Myopia

Rare Symptoms - Less than 30% cases


Microdontia Postnatal growth retardation Abnormal cardiac septum morphology Small for gestational age Hydrocephalus Dolichocephaly Increased body weight Patent ductus arteriosus Congenital diaphragmatic hernia Knee flexion contracture Pes planus Proptosis Abnormality of cardiovascular system morphology Thrombocytopenia Severe short stature Hypospadias Clinodactyly of the 5th finger Abnormality of the foot Toe syndactyly Thin skin Astigmatism Talipes equinovarus Prominent forehead Clinodactyly Hernia Syndactyly Long philtrum Short neck Ventricular septal defect Gastroesophageal reflux Macrocephaly Wide nasal bridge Feeding difficulties Mitral valve prolapse Decreased fertility in males Arachnodactyly Pectus carinatum Brachycephaly Osteoporosis Bruising susceptibility Abnormal vertebral morphology Sleep disturbance Soft skin Choanal atresia Hyperextensible skin Recurrent urinary tract infections Telangiectasia Pulmonic stenosis Ectopic kidney Pallor Abnormality of the pinna Camptodactyly Abnormality of the urinary system Hyperinsulinemia Tracheoesophageal fistula Hypoglycemia Respiratory distress Osteopenia Abnormality of the skeletal system Dilated cardiomyopathy Hypogonadism Hyperhidrosis Respiratory failure Joint stiffness Myalgia Dyspnea Clubbing Hypotension Short stature Cleft upper lip Palpitations Sepsis Sudden cardiac death Kyphosis Epiphora Blurred vision Long eyelashes Frontal bossing Microcephaly Strabismus Intrauterine growth retardation Fever Cataract Ventricular arrhythmia Epicanthus Anemia Cryptorchidism Abnormal facial shape Pectus excavatum Nystagmus Failure to thrive Recurrent hypoglycemia Hiatus hernia Neoplasm Growth delay Nocturia Neonatal hypoglycemia Amyloidosis Proximal lower limb amyotrophy Abnormal atrioventricular conduction Peroneal muscle atrophy Increased LDL cholesterol concentration Hypothermia Distal lower limb muscle weakness Multiple myeloma Shoulder girdle muscle atrophy Proximal muscle weakness in lower limbs Supraventricular arrhythmia Atrial arrhythmia Ventricular escape rhythm Orthostatic hypotension Proximal spinal muscular atrophy Kyphoscoliosis Motor delay Hypoplastic radial head Absent muscle fiber emerin Dysplastic tricuspid valve Restricted neck movement due to contractures Peripheral neuropathy Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Proximal muscle weakness in upper limbs Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Abnormality of the nervous system Intermittent hypothermia Dehydration Peroneal muscle weakness Abnormal autonomic nervous system physiology Left anterior fascicular block Limb-girdle muscle atrophy Achilles tendon contracture Progressive proximal muscle weakness Shoulder girdle muscle weakness Respiratory insufficiency due to muscle weakness Difficulty walking Back pain Rigidity Atrioventricular block EMG: myopathic abnormalities Neonatal hypotonia Proximal muscle weakness Facial palsy Reduced tendon reflexes Hyperlordosis Scapular winging Pes cavus Muscular dystrophy Limb muscle weakness Lower limb muscle weakness Bradycardia Ichthyosis Progressive muscle weakness Hypertriglyceridemia Falls Atrial fibrillation Waddling gait Myocardial infarction Lipodystrophy Limb-girdle muscular dystrophy Distal lower limb amyotrophy Ankle contracture Retrograde ejaculation Limb-girdle muscle weakness Muscle weakness Proximal amyotrophy Skeletal muscle atrophy Vocal cord paralysis Gait disturbance Heart block Sprengel anomaly Respiratory insufficiency Myopathy Spinal muscular atrophy Rimmed vacuoles Spinal rigidity Difficulty climbing stairs Midface retrusion Obesity Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Myotonia Elevated serum creatine phosphokinase Congenital muscular dystrophy Frequent falls Abnormally folded helix Camptodactyly of finger Delayed puberty Ischemic stroke Cutis laxa Aortic regurgitation Short chin Hypogonadotrophic hypogonadism Recurrent pneumonia Aortic valve stenosis Gynecomastia Diplopia Ventricular hypertrophy Amenorrhea Progressive visual loss Convex nasal ridge Long face Stroke Heart murmur Scarring Blepharophimosis Macrotia Blindness Downslanted palpebral fissures Genital hernia Cystocele Tendon rupture Premature rupture of membranes Arterial dissection Anorectal anomaly Abnormality of the gingiva Abnormality of the menstrual cycle Ascending tubular aorta aneurysm Easy fatigability Hyperglycemia Gastrointestinal dysmotility Decreased female libido Abnormality of hair density Telangiectases of the cheeks Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Soft, doughy skin Fourth cranial nerve palsy Cranial nerve VI palsy Bitemporal hemianopia Adrenocorticotropin deficient adrenal insufficiency Dyspareunia Female hypogonadism Sudden loss of visual acuity Decreased circulating ACTH level Arterial tortuosity Impotence Decreased fertility in females Secondary growth hormone deficiency Galactorrhea Oculomotor nerve palsy Rectal prolapse Abnormal thrombosis Bladder diverticulum Adrenocorticotropic hormone deficiency Pituitary hypothyroidism Male hypogonadism Pulmonary artery stenosis Growth hormone excess Tracheomalacia Atrophic scars Venous insufficiency Aplasia/Hypoplasia of the abdominal wall musculature Arthrogryposis multiplex congenita Abnormality of the musculature Spinal deformities Hypoplasia of the musculature Interrupted aortic arch Slender build Duodenal atresia Abnormally large globe Single umbilical artery Patellar dislocation Megalocornea Scaphocephaly Esophageal atresia Distal arthrogryposis Hip contracture Ulnar deviation of finger Slender finger Iridodonesis Disproportionate tall stature Decreased muscle mass Metatarsus adductus Congenital contracture Aortic aneurysm Ectopia lentis Adducted thumb Bicuspid aortic valve Bowing of the long bones Mitral regurgitation Interphalangeal joint contracture of finger Intestinal malrotation Chest pain Talipes Lens subluxation Patellar subluxation Abnormality of the wrist Osteoarthritis Atypical scarring of skin Acrocyanosis Gingivitis Striae distensae Keratoconjunctivitis sicca Decreased fertility Elbow dislocation Decreased nerve conduction velocity Abnormal palate morphology Osteolysis Joint dislocation Wormian bones Gingival overgrowth Subcutaneous nodule Migraine Crumpled ear Apnea Reduced renal corticomedullary differentiation Congenital kyphoscoliosis Calf muscle hypoplasia Depressivity Constipation Arthralgia Nausea and vomiting Limitation of joint mobility Malabsorption Joint hyperflexibility Paresthesia Nausea Joint hypermobility Abdominal distention Abnormality of the umbilicus Aspiration Otitis media with effusion Cafe-au-lait spot Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Aganglionic megacolon Abnormality of vision Abnormality of the genital system Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Anal atresia Facial asymmetry Reduced bone mineral density Myelodysplasia Leukemia Chromosome breakage Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality Triphalangeal thumb External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Finger syndactyly Abnormality of the liver Abnormal renal morphology Epidermal acanthosis Alopecia of scalp Curly hair Fragile skin Exertional dyspnea Right bundle branch block Akinesia Brittle hair Ventricular tachycardia Acanthosis nigricans Cardiac arrest Sparse and thin eyebrow Sparse scalp hair Cardiomegaly Woolly hair Cyanosis Abnormal blistering of the skin Ectodermal dysplasia Palmoplantar keratoderma Tachycardia Nail dystrophy Erythema Hyperkeratosis Alopecia Abnormal vitreous humor morphology Retinal detachment Corneal opacity Retinopathy Ventricular extrasystoles Clubbing of fingers Irritability Ataxia Abnormality of the kidney Abnormality of the eye Carcinoma Hypothyroidism Weight loss Diabetes mellitus Upslanted palpebral fissure Microphthalmia Renal insufficiency Ventriculomegaly Hyperreflexia Hepatomegaly Visual impairment Anosmia Reduced ejection fraction Abnormal morphology of right ventricular trabeculae Ventricular flutter Abnormal right ventricle morphology Paroxysmal ventricular tachycardia Right ventricular dilatation Prolonged QRS complex Abnormal T-wave Acantholysis Abnormality of hair texture Right ventricular cardiomyopathy T-wave inversion Hypergranulosis Onycholysis Abnormal aortic valve morphology Abnormal localization of kidney Malrotation of colon Widely spaced teeth 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Proximal placement of thumb Self-injurious behavior Pyloric stenosis Short metatarsal Deep philtrum Incoordination Hypoplasia of the radius Relative macrocephaly Torticollis Limited elbow extension Spontaneous abortion Low anterior hairline Hypertrichosis Low posterior hairline Renal hypoplasia Blue sclerae High myopia Otitis media Webbed neck Vesicoureteral reflux Triangular face Renal cyst Microcornea Opisthotonus Abnormality of digit Tapered finger Short sternum Duplication of internal organs Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Phocomelia Hand oligodactyly Perimembranous ventricular septal defect Peters anomaly Weak cry Panhypopituitarism Volvulus Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Esophagitis Aspiration pneumonia Poor appetite Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Delayed eruption of teeth Single transverse palmar crease Abnormality of chromosome stability Absent testis Delayed speech and language development Low-set ears Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Hypoplastic anemia Optic atrophy Chromosomal breakage induced by crosslinking agents Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Depressed nasal bridge Anteverted nares Highly arched eyebrow Telecanthus Small hand High, narrow palate Downturned corners of mouth Hirsutism Pulmonary hypoplasia Thick eyebrow Thin vermilion border Micromelia Synophrys Prominent nasal bridge Craniosynostosis Autistic behavior Respiratory tract infection Aggressive behavior Intellectual disability, severe Proteinuria Conductive hearing impairment Thin upper lip vermilion Retrognathia Mandibular prognathia Autism Narrow mouth Glaucoma Hyperactivity Pneumonia Delayed skeletal maturation Behavioral abnormality Hypertonia Aortic tortuosity



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Delayed eruption of teeth, related diseases and genetic alterations Brachydactyly and Coarse facial features, related diseases and genetic alterations Skeletal muscle atrophy and Rhizomelia, related diseases and genetic alterations Immunodeficiency and Frontal bossing, related diseases and genetic alterations

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