Cleft palate, and Nail dystrophy

Diseases related with Cleft palate and Nail dystrophy

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


Top matches:

Low match AUTOSOMAL DOMINANT HYPER-IGE SYNDROME


Autosomal dominant hyper-IgE syndrome (AD-HIES) is a very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles.

AUTOSOMAL DOMINANT HYPER-IGE SYNDROME Is also known as autosomal dominant hyperimmunoglobulin e syndrome|hyperimmunoglobulin e syndrome type 1|ad-hies|buckley syndrome|stat3 deficiency|job syndrome|hyperimmunoglobulin e-recurrent infection syndrome|autosomal dominant hies

Related symptoms:

  • Scoliosis
  • Cleft palate
  • Wide nasal bridge
  • Fever
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPER-IGE SYNDROME

Low match ZLOTOGORA-OGUR SYNDROME


Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

ZLOTOGORA-OGUR SYNDROME Is also known as cleft lip/palate-ectodermal dysplasia syndrome|clped1|ed4|syndactyly-ectodermal dysplasia-cleft/lip palate|cleft lip/palate-syndactyly-pili torti syndrome|ectodermal dysplasia, margarita island type|ectodermal dysplasia, cleft lip and palate, mental retar

Related symptoms:

  • Intellectual disability
  • Seizures
  • Micrognathia
  • Cleft palate
  • Wide nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZLOTOGORA-OGUR SYNDROME

Low match ROSSELLI-GULIENETTI SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ROSSELLI-GULIENETTI SYNDROME

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Other less relevant matches:

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 CLEIDOCRANIAL DYSPLASIA


Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.

CLEIDOCRANIAL DYSPLASIA Is also known as high scapula|cleidocranial dysostosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLEIDOCRANIAL DYSPLASIA

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

Low match OTOPALATODIGITAL SYNDROME, TYPE I; OPD1


Otopalatodigital syndrome-1 is 1 of 4 otopalatodigital syndromes caused by mutations in the FLNA gene. The disorders, which include frontometaphyseal dysplasia (FMD1 ), otopalatodigital syndrome-2 (OPD2 ), and Melnick-Needles syndrome (MNS ), constitute a phenotypic spectrum. At the mild end of the spectrum, males with OPD1 have cleft palate and mild skeletal anomalies with conductive deafness caused by ossicular anomalies. FMD is characterized by a generalized skeletal dysplasia, deafness and urogenital defects. Males with OPD2 have disabling skeletal anomalies in addition to variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death. The most severe phenotype, MNS, is characterized by a skeletal dysplasia in the heterozygote. Affected males exhibit severe malformations similar to those observed in individuals with OPD2, resulting in prenatal lethality or death in the first few months of life (review by Robertson, 2005). Verloes et al. (2000) suggested that these disorders constitute a single entity, which they termed 'frontootopalatodigital osteodysplasia.'

OTOPALATODIGITAL SYNDROME, TYPE I; OPD1 Is also known as opd syndrome 1|opd i syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOPALATODIGITAL SYNDROME, TYPE I; OPD1

Low match ELLIS VAN CREVELD SYNDROME


Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.

ELLIS VAN CREVELD SYNDROME Is also known as mesodermic dysplasia|mesoectodermal dysplasia|chondroectodermal dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Failure to thrive
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ELLIS VAN CREVELD SYNDROME

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Low match EEC SYNDROME


EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Top 5 symptoms//phenotypes associated to Cleft palate and Nail dystrophy

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Cleft upper lip Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Abnormality of dental enamel Common - Between 50% and 80% cases
Syndactyly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cleft lip

Uncommon Symptoms - Between 30% and 50% cases


Ectodermal dysplasia

Common Symptoms - More than 50% cases


Hypodontia

Uncommon Symptoms - Between 30% and 50% cases


Wide nasal bridge Sparse eyelashes Toe syndactyly Dystrophic fingernails Abnormality of the dentition Sparse hair Micrognathia Oral cleft Intellectual disability Nail dysplasia Microdontia Hypohidrosis Pili torti Carious teeth Sparse and thin eyebrow Hypospadias Finger syndactyly Dystrophic toenail Depressed nasal bridge Midface retrusion Malar flattening Clinodactyly of the 5th finger Scoliosis Delayed eruption of teeth Recurrent respiratory infections Protruding ear Renal dysplasia Fine hair Anodontia Selective tooth agenesis Ectrodactyly Abnormality of the kidney Hypoplasia of the maxilla Abnormality of the ureter Conductive hearing impairment Hypotrichosis Alopecia Narrow mouth Skeletal dysplasia Downslanted palpebral fissures Ventricular septal defect Seizures

Rare Symptoms - Less than 30% cases


Conical tooth Hyperconvex nail Supernumerary nipple Coarse hair Cryptorchidism Ankyloblepharon Renal agenesis Widely spaced teeth Recurrent otitis media Renal hypoplasia/aplasia Small nail Bifid uvula Palmoplantar keratoderma Capitate-hamate fusion Polydactyly Talipes equinovarus Synostosis of carpal bones Micropenis Frontal bossing Sensorineural hearing impairment Recurrent urinary tract infections Microtia Split hand Choanal atresia Anonychia Pain Failure to thrive Blue irides Abnormality of pelvic girdle bone morphology Agenesis of permanent teeth Abnormality of the metacarpal bones Blepharitis Sinusitis Limited elbow extension Growth delay Abnormality of the skeletal system Pectus excavatum Genu valgum Severe short stature Narrow chest Short distal phalanx of finger Broad forehead Hydroureter Hypoplastic toenails Hyperkeratosis Osteoporosis Thoracic hypoplasia Proximal placement of thumb Hypertelorism Ptosis Neurological speech impairment Palmoplantar hyperkeratosis Scrotal hypoplasia Bilateral single transverse palmar creases Sparse scalp hair Wide intermamillary distance Synophrys Hyperlordosis Abnormality of dental morphology EEG abnormality Recurrent fractures Lymphoma Macrotia Hypogonadism Abnormality of the hair Chronic otitis media Brittle hair Highly arched eyebrow Progressive hypotrichosis Anhidrosis Abnormality of the philtrum Bilateral cleft lip and palate Pterygium Sparse lateral eyebrow Dilatation Hypoplasia of the zygomatic bone Cutaneous finger syndactyly Abnormality of the ear Cutaneous syndactyly of toes Abnormal oral mucosa morphology Hypoplastic iliac wing Abnormal heart morphology Neonatal short-limb short stature Atrial septal defect Horizontal ribs Abnormality of female internal genitalia Thoracic dysplasia Abnormality of the nasopharynx Epispadias Duplicated collecting system Abnormality of cardiovascular system morphology Abnormal hair quantity Nail pits Micromelia Abnormality of bone marrow cell morphology Cataract Pes planus Glaucoma Central diabetes insipidus Urethral stenosis Renal insufficiency Edema Hypertension Thin nail Common atrium Neoplasm Cone-shaped epiphyses of phalanges 2 to 5 Generalized microdontia Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Abnormal oral frenulum morphology Conical incisor Upper limb undergrowth Acute leukemia Short ribs Aplasia/Hypoplasia of the breasts Short long bone Abnormality of the inner ear Mesoaxial polydactyly Abnormality of the fingernails Pectus carinatum Abnormality of the nail Situs inversus totalis Megacystis Heterotopia Postaxial hand polydactyly Limb undergrowth Dandy-Walker malformation Transverse vaginal septum Postaxial polydactyly Thin vermilion border Hand polydactyly Cubitus valgus Aplasia/Hypoplasia of the lungs Atrioventricular canal defect Abnormality of the middle ear Postaxial foot polydactyly Periorbital hyperpigmentation Foot polydactyly Natal tooth Abnormal heart valve morphology Disproportionate short stature Short thorax Urethral atresia Delayed skeletal maturation Arthrogryposis multiplex congenita Hypoplastic left heart Ureterocele Dextrocardia Emphysema Mild short stature Dacryocystitis Proteinuria Spina bifida Talipes Sparse pubic hair Dry skin Blepharophimosis Hydronephrosis Photophobia Flexion contracture Biceps aplasia Lester's sign Absence of pectoralis minor muscle Nevus Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Hypoplasia of the thymus Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Thick eyebrow Vesicoureteral reflux Iliac horns External ear malformation Corneal erosion Taurodontia Generalized hypopigmentation Depressed nasal tip Split foot Xerostomia Sparse axillary hair Dysuria Growth hormone deficiency Hypoplastic nipples Aplasia/Hypoplasia of the thumb Aplasia/Hypoplasia of the skin Keratitis Reduced number of teeth Cutaneous syndactyly Hypogonadotrophic hypogonadism Hypoplasia of dental enamel Hypoplastic radial head Glenoid fossa hypoplasia Confusion Slow-growing hair Glomerulonephritis Anterior hypopituitarism Abnormality of the urinary system Aortic regurgitation Lacrimation abnormality Entropion Fair hair Lumbar hyperlordosis Colon cancer Aplasia/Hypoplasia of the nipples Nephrotic syndrome Microcornea Nephropathy Bladder diverticulum Inflammatory abnormality of the eye Hematuria Paresthesia Nephritis Keratoconus Hypoplasia of first ribs Microalbuminuria Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Cervical ribs Aplasia/Hypoplasia of the patella Renal cell carcinoma Patellar hypoplasia Concave nail Ridged nail Patellar aplasia Tubulointerstitial nephritis Raynaud phenomenon Abnormality of the elbow Patellar dislocation Intrauterine growth retardation Fibrous syngnathia Strabismus Small, conical teeth High, narrow palate Mandibular prognathia Brachycephaly Macrocephaly Brachydactyly Decreased number of sweat glands Progressive alopecia Submucous cleft soft palate Sloping forehead Pili canaliculi Absent lacrimal punctum Hyperconvex fingernails Trichodysplasia Velopharyngeal insufficiency Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Tapered finger Abnormality of the ribs Thick nail Sprengel anomaly Abnormal sacrum morphology Dimple chin Abnormality of the thumb Decreased skull ossification Hypoplastic scapulae Down-sloping shoulders Hearing abnormality Glossoptosis Short clavicles Large fontanelles Increased number of teeth Open bite Sleep apnea Spina bifida occulta Coxa vara Hemivertebrae Wormian bones Abnormality of epiphysis morphology Dry hair Hypoplastic labia majora Rib segmentation abnormalities Pruritus Skin vesicle Osteomyelitis Eosinophilia Skin ulcer Abnormality of the face Eczema Joint hyperflexibility Papule Gingivitis Cough Skin rash Craniosynostosis Deeply set eye Osteopenia Prominent forehead Recurrent infections Fever Cellulitis Atelectasis Narrow nose Anteverted ears Generalized hyperpigmentation Submucous cleft hard palate Non-midline cleft lip Abnormality of the voice Thin skin Underdeveloped nasal alae Pulmonary hypoplasia High forehead Scaling skin Increased IgE level Global developmental delay Bilateral cleft lip Aplasia/Hypoplasia of the eyebrow Abnormal dermatoglyphics Triangular face Hyperhidrosis Generalized abnormality of skin Paronychia Cervical C2/C3 vertebral fusion Hypoplastic inferior ilia Abnormality of the fifth metatarsal bone Finger clinodactyly Prominent occiput Broad hallux Elbow dislocation Prominent supraorbital ridges Abnormality of the genitourinary system Oligodontia Sandal gap Coxa valga Dislocated radial head Congenital hip dislocation Increased bone mineral density Short thumb Broad thumb Bowing of the long bones Omphalocele Limitation of joint mobility Short palm Thickened calvaria Short hallux Hip dislocation Broad distal phalanx of the thumb Long second metacarpal Lateral femoral bowing Bulbous tips of toes Thick skull base Limited knee flexion Abnormality of the tarsal bones Accessory carpal bones Bipartite calcaneus Short 3rd metacarpal Short 4th metacarpal Multiple impacted teeth Abnormal vertebral segmentation and fusion Hypoplastic frontal sinuses Absent frontal sinuses Short 5th metacarpal Delayed closure of the anterior fontanelle Broad face Bifid tongue Flat face Clinodactyly Shoulder muscle hypoplasia Otitis media Erythroderma Atresia of the external auditory canal Conjunctivitis Increased body weight Hoarse voice Hyperpigmentation of the skin Inflammatory abnormality of the skin Sepsis 2-3 toe syndactyly Scarring Camptodactyly Abnormality of the nervous system Patent ductus arteriosus Feeding difficulties Neck muscle hypoplasia Cervical segmentation defect Short face Hammertoe Sparse body hair Short nose Patchy alopecia Intellectual disability, mild Low-set ears Microcephaly Otitis externa Vaginal dryness 3-4 toe syndactyly Bilateral choanal atresia Lacrimal duct atresia Oval face Keratoconjunctivitis sicca Orthokeratosis Plantar hyperkeratosis Skin erosion Heat intolerance Trismus Chronic sinusitis Absent eyelashes Pustule Absence of Stensen duct



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Brachydactyly and Subcutaneous nodule, related diseases and genetic alterations Skeletal muscle atrophy and Meningitis, related diseases and genetic alterations Ptosis and Craniosynostosis, related diseases and genetic alterations Pain and Thin skin, related diseases and genetic alterations

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