Cleft palate, and Palmoplantar keratoderma

Diseases related with Cleft palate and Palmoplantar keratoderma

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


Top matches:

Low match KERATODERMA HEREDITARIUM MUTILANS


Keratoderma hereditarium mutilans is a rare, diffuse, mutilating, hereditary palmoplantar keratoderma disorder characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.

KERATODERMA HEREDITARIUM MUTILANS Is also known as khm|mutilating keratoderma|deafness, congenital, with keratopachydermia and constrictions of fingers and toes|vohwinkel syndrome|mutilating keratoderma of vohwinkel|mutilating keratoderma plus deafness|keratoderma hereditarium mutilans|ppk mutilans and de

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment
  • Cleft palate
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KERATODERMA HEREDITARIUM MUTILANS

Low match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Low match ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE


ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE Is also known as hay-wells syndrome|aec syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Cleft palate
  • Pain


SOURCES: OMIM MESH MENDELIAN

More info about ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE

Mendelian

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

Learn more

Other less relevant matches:

Low match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

Low 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

Low match ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME


Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Low match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Low match BASAL CELL NEVUS SYNDROME; BCNS


BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Low match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cleft palate and Palmoplantar keratoderma

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Hypotrichosis Common - Between 50% and 80% cases
Alopecia Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Intellectual disability 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 Palmoplantar keratoderma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Sparse hair Cleft upper lip Abnormality of the nail Micrognathia Hypertelorism Abnormality of the dentition Nail dystrophy Depressed nasal bridge Syndactyly High forehead Brittle hair Strabismus Umbilical hernia Proptosis Ectodermal dysplasia Downslanted palpebral fissures Fine hair Short stature Cryptorchidism Global developmental delay Ventricular septal defect Erythema Papule Microcephaly Cleft lip Ventriculomegaly Ataxia Cataract Optic atrophy Dysarthria Short nose Absent eyelashes Anteverted nares Hyperpigmentation of the skin Choanal atresia Inflammatory abnormality of the skin Carious teeth Scarring Camptodactyly Lymphedema Dry skin Hydrocephalus Curly hair Melanocytic nevus Alopecia of scalp Seizures Scoliosis Hyperhidrosis Failure to thrive Nystagmus Hypoplasia of the zygomatic bone Abnormality of vision Malar flattening Myopia Epidermal acanthosis Abnormality of the eye Frontal bossing Intellectual disability, severe Microphthalmia Macrotia Polydactyly Feeding difficulties Epicanthus Narrow nose Ectrodactyly Submucous cleft hard palate Small nail Hypohidrosis Sparse eyelashes Ichthyosis Narrow mouth Wide nasal bridge Conductive hearing impairment Abnormality of dental enamel Clinodactyly of the 5th finger

Rare Symptoms - Less than 30% cases


Recurrent infections EEG abnormality Reduced number of teeth Redundant skin Cubitus valgus Underdeveloped supraorbital ridges Bilateral ptosis Kyphosis Abnormality of the fingernails Bifid scrotum Narrow palate Acanthosis nigricans Pulmonary hypoplasia Palmoplantar hyperkeratosis Respiratory distress Hypodontia Vomiting Cerebral cortical atrophy Agenesis of corpus callosum Finger syndactyly Hypospadias Low-set, posteriorly rotated ears Recurrent respiratory infections Dolichocephaly Overgrowth Delayed skeletal maturation Inguinal hernia Hernia Skin tags Muscular hypotonia Coarse facial features Abnormality of the skeletal system High palate Abnormality of cardiovascular system morphology Delayed speech and language development Blindness Edema Atrial septal defect Hepatomegaly Cardiomegaly Brachydactyly Thickened skin Woolly hair Visual impairment Spasticity Hypogonadotrophic hypogonadism Visual loss Splenomegaly Thickened helices Congestive heart failure Oxycephaly Growth delay Cerebral calcification Plantar hyperkeratosis Prominent forehead Cardiomyopathy Dilatation Glaucoma Arrhythmia Abnormal heart morphology Cognitive impairment Abnormality of the cerebral white matter Thrombocytopenia Mandibular prognathia Underdeveloped nasal alae Hypoplasia of the maxilla Recurrent otitis media Hypoplasia of dental enamel Hydroureter Abnormality of the ribs Microdontia Absent eyebrow Sepsis Oral cleft Toe syndactyly Supernumerary nipple Non-midline cleft lip Abnormality of the nervous system Hemiparesis Optic nerve dysplasia Generalized hyperpigmentation Pain Nevus Conjunctivitis Pectus excavatum Pili torti Dystrophic fingernails Conical tooth Scaling skin Dry hair Hemivertebrae Macrocephaly Arachnodactyly Ankyloblepharon Hyperconvex nail Telecanthus Neoplasm Hyperconvex fingernails Psoriasiform dermatitis Relative macrocephaly Widely spaced teeth Abnormality of hair texture Heat intolerance Abnormality of the sternum Erythroderma Hip dislocation Blepharitis Camptodactyly of finger Low posterior hairline Astigmatism Agenesis of permanent teeth Slow-growing hair Fragile nails Genu valgum Postaxial polydactyly Patchy alopecia Pruritus Thin skin Renal dysplasia Sparse and thin eyebrow Hydronephrosis Selective tooth agenesis Abnormality of the kidney 3-4 toe syndactyly Abnormal eyelash morphology Respiratory tract infection Pectus carinatum Behavioral abnormality Leukemia Abnormal cardiac septum morphology Bruising susceptibility Retinal dystrophy Abnormality of skin pigmentation Long philtrum Falls Long face Hypertrophic cardiomyopathy Joint hypermobility Aggressive behavior Osteopenia Gastroesophageal reflux Polyhydramnios Neurological speech impairment Peripheral axonal neuropathy Cerebral atrophy Autism Feeding difficulties in infancy Irritability Posteriorly rotated ears Constipation Bulbous nose Pulmonic stenosis Depressivity Hypermetropia Encephalopathy Multiple impacted teeth Hypertonia Inflammation of the large intestine Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Down-sloping shoulders Sprengel anomaly Thoracic scoliosis Colitis Vertebral fusion Long fingers Basal cell carcinoma Milia Disproportionate tall stature Nephritis Brain neoplasm Glomerulonephritis Neoplasm of the skin Spina bifida occulta Muscle stiffness Short ribs Spina bifida Bradycardia Exotropia Hypotension Iris coloboma Coloboma Facial palsy Proteinuria Carcinoma Ulcerative colitis Astrocytoma Short neck Histiocytoma Dysphagia Low-set ears Generalized hypotonia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Calcification of falx cerebri Medulloblastoma Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Hepatic steatosis Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Thick vermilion border Hypoplastic labia majora High, narrow palate Abnormal location of ears Abnormality of metabolism/homeostasis Intellectual disability, mild Diarrhea Anemia Abnormal facial shape Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Hepatosplenomegaly Anterior creases of earlobe Cavernous hemangioma Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Endocarditis Frontal balding Abnormality of the optic disc Hyperkeratosis pilaris Abnormal tricuspid valve morphology Hypoplasia of the frontal lobes Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Obesity Elevated hepatic transaminase Abnormality of the pulmonary artery Chronic lung disease Petechiae Elevated erythrocyte sedimentation rate Abnormality of the hip bone Aplasia/Hypoplasia of the skin Abnormality of the immune system Prolonged neonatal jaundice Concave nasal ridge Osteomyelitis White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Increased antibody level in blood Systemic lupus erythematosus Skin rash Depressed nasal ridge Hirsutism Asthma Convex nasal ridge Dehydration Hepatitis Cutaneous photosensitivity Abnormal lung morphology Reduced bone mineral density Abnormality of retinal pigmentation Skin ulcer Low anterior hairline Bilateral single transverse palmar creases Recurrent pneumonia Generalized hirsutism Excessive wrinkled skin Hyperextensibility of the finger joints Sleep disturbance Abnormality of the genitourinary system Aspiration Oculomotor apraxia Cutis laxa Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Hemangioma Delayed gross motor development Cafe-au-lait spot Optic nerve hypoplasia Poor suck Hyperextensible skin Deep philtrum Failure to thrive in infancy Sparse eyebrow Cerebral visual impairment Decreased body weight Ectropion Dental malocclusion Abdominal distention Abnormal bleeding Full cheeks Vesicoureteral reflux Intestinal malrotation Premature birth Webbed neck Open mouth Growth hormone deficiency Progressive visual loss Abnormality of the cardiovascular system Narrow forehead Coarctation of aorta Myocardial infarction Pleural effusion Chronic otitis media Abnormal aortic valve morphology Abnormality of the testis Abnormality of the ulna Abnormality of the gastrointestinal tract Short attention span Thick upper lip vermilion Abnormal hair pattern Abnormality of the optic nerve Delayed CNS myelination Enlarged kidney Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Abnormal mitral valve morphology Subvalvular aortic stenosis Premature skin wrinkling Arnold-Chiari type I malformation Heart murmur Neurofibromas Obsessive-compulsive behavior Large for gestational age Open bite Malnutrition Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Infantile spasms Atopic dermatitis Long palpebral fissure Abnormal heart valve morphology Multiple cafe-au-lait spots Biparietal narrowing Anal stenosis Poor appetite Sleep apnea Paraparesis Retrognathia Syncope Epidermal thickening Fragile skin Exertional dyspnea Right bundle branch block Akinesia Ventricular arrhythmia Ventricular tachycardia Cardiac arrest Long eyelashes Sparse scalp hair Palpitations Cyanosis Abnormal blistering of the skin Sudden cardiac death Ventricular extrasystoles Tachycardia Vertigo Dilated cardiomyopathy Honeycomb palmoplantar keratoderma Dyspnea Respiratory failure Fatigue Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Craniofacial dysostosis Ainhum Clubbing of fingers Cloverleaf skull Leukonychia Mental deterioration Photophobia Dementia Severe short stature Cerebellar hypoplasia Self-injurious behavior Immunodeficiency Abnormal toenail morphology Hypoplasia of the corpus callosum Xanthomatosis Intrauterine growth retardation Amniotic constriction ring Flexion contracture Abnormality of the spinal cord Reduced ejection fraction Autoamputation of digits 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 Right ventricular cardiomyopathy T-wave inversion Hypergranulosis Onycholysis Visceral angiomatosis Redundant neck skin Corneal opacity Microtia Sparse body hair Anonychia Anhidrosis 2-3 toe syndactyly Hammertoe Atresia of the external auditory canal Increased body weight Hoarse voice Sinusitis Coarse hair Split hand Abnormality of the voice Otitis media Micropenis Pustule Patent ductus arteriosus Decreased number of sweat glands Progressive alopecia Small, conical teeth Submucous cleft soft palate Pili canaliculi Absent lacrimal punctum Trichodysplasia Velopharyngeal insufficiency Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Thick nail Keratoconjunctivitis sicca Chronic sinusitis Aplasia/Hypoplasia of the earlobes Prominent nasal bridge Abnormality of the pancreas Breech presentation Choanal stenosis Abnormality of the skull Hearing abnormality Turricephaly Anteriorly placed anus Natal tooth Limited elbow extension Arnold-Chiari malformation Gingival overgrowth Subcutaneous nodule Abnormality of the face Craniosynostosis Trismus Protruding ear Delayed eruption of teeth Midface retrusion Bifid uvula Hypertension Otitis externa Vaginal dryness Fibrous syngnathia Bilateral choanal atresia Lacrimal duct atresia Oval face Orthokeratosis Skin erosion Developmental regression Platyspondyly Kyphoscoliosis Hand polydactyly Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Narrow nasal bridge Progressive spasticity Abnormality of the ear Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Preaxial polydactyly Abnormality of the clavicle Spastic tetraparesis Spastic paraparesis Dystrophic toenail Sensorineural hearing impairment Dental crowding Abnormality of the metaphysis Abnormal form of the vertebral bodies Short palpebral fissure Tetraparesis Hypotelorism Microcornea Flat face Paresthesia Hypoparathyroidism Taurodontia Spastic paraplegia Broad alveolar ridges Abdominal pain Brachycephaly Motor delay Thin anteverted nares Vertebral hyperostosis 4-5 finger syndactyly Abnormality iris morphology Tooth abscess Hyperintensity of cerebral white matter on MRI Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Madelung deformity Progressive spastic paraparesis Low hanging columella Narrow nasal ridge Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Paraplegia Blepharophimosis Talipes Plagiocephaly Parakeratosis Uveitis Oligodactyly Atonic seizures Congenital ichthyosiform erythroderma Abnormality of the vertebral column Absent septum pellucidum Mixed hearing impairment Keratitis Intestinal obstruction Unilateral renal agenesis Urticaria Abnormality of the hand Opacification of the corneal stroma Corneal erosion Recurrent bacterial infections Multicystic kidney dysplasia Abnormality of the hair Abnormal vertebral morphology Aganglionic megacolon Omphalocele Oligohydramnios Eczema Postaxial hand polydactyly Specific learning disability Nail dysplasia Brain atrophy Mutism Abnormal eyelid morphology Follicular hyperkeratosis Abnormality of the pinna Scleritis Deeply set eye Hypoglycemia Upslanted palpebral fissure Clinodactyly Facial asymmetry Gait disturbance Hyperreflexia Muscle weakness Osteolysis Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Thin fingernail Hypoplasia of the bladder Hypoplastic fingernail Cerebral cortical hemiatrophy Paronychia Episcleritis Abnormality of temperature regulation Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Thin eyebrow Alopecia totalis Olivopontocerebellar atrophy Recurrent corneal erosions Recurrent cystitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Joint hypermobility, related diseases and genetic alterations Hepatomegaly and Areflexia, related diseases and genetic alterations Obesity and Sparse hair, related diseases and genetic alterations Strabismus and Memory impairment, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more