Cleft palate, and Skin rash

Diseases related with Cleft palate and Skin rash

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


Top matches:

Low match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

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 RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

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Other less relevant matches:

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

Low match BALLER-GEROLD SYNDROME


Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).

BALLER-GEROLD SYNDROME Is also known as craniosynostosis-radial aplasia syndrome|craniosynostosis with radial defects

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BALLER-GEROLD SYNDROME

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

Low match PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE


Related symptoms:

  • Scoliosis
  • High palate
  • Visual impairment
  • Hypertension
  • Myopia


SOURCES: OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE

Low match METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF


cblF type methylmalonic acidemia with homocystinuria is a form of methylmalonic acidemia with homocystinuria (see this term), an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures.

METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF Is also known as cobalamin, defect in lysosomal release of|cobalamin f defect|combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblf|cblf|vitamin b12 storage disease|vitamin b12 lysosomal release defect|methylmalonic aciduria due to vitamin b12-rele

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA TYPE CBLF

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Low match AL KAISSI SYNDROME; ALKAS


Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by Windpassinger et al., 2017).

AL KAISSI SYNDROME; ALKAS Is also known as growth retardation, spine malformation, dysmorphic facies, and developmental delay

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AL KAISSI SYNDROME; ALKAS

Top 5 symptoms//phenotypes associated to Cleft palate and Skin rash

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Short stature Epicanthus Anemia Lymphoma Delayed eruption of teeth Cellulitis Visual impairment Cataract Hypertelorism Osteosarcoma Hearing impairment Erythema Arthritis Global developmental delay Neoplasm Abnormal heart morphology

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Uveitis Thrombocytopenia Generalized hypotonia Low-set ears Thin upper lip vermilion Malar rash Brachycephaly Neutropenia Abnormal cardiac septum morphology Chromosome breakage Abnormality of skin pigmentation Sarcoma Feeding difficulties Proptosis Glaucoma Visual loss Malabsorption Vomiting Hydrocephalus Muscular hypotonia Pancytopenia Abnormal facial shape Spina bifida occulta Micrognathia Abnormality of the skeletal system Hypertension Short thumb Blue sclerae Bilateral radial aplasia Encephalitis Aplasia/Hypoplasia of the patella Rectovaginal fistula Poikiloderma Absent radius Aplasia/Hypoplasia of the thumb Anteriorly placed anus Absent thumb Verrucae Retinal hemorrhage Frontal bossing Hypodontia Small hand Anal atresia Downslanted palpebral fissures Corneal opacity Small for gestational age Hyperkeratosis Alopecia Microphthalmia Short nose Diarrhea Myopia High, narrow palate Failure to thrive Nystagmus Abnormality of the hair Wide nasal bridge Fever Recurrent infections Recurrent respiratory infections Prominent forehead Craniosynostosis Large fontanelles Cough Osteopenia Osteoporosis Flexion contracture Ptosis Skin ulcer Pain Hyperhidrosis Eosinophilia Osteomyelitis Chronic otitis media Skin vesicle Anterior plagiocephaly Narrow forehead Hypopigmented skin patches Osteolysis Broad-based gait Oxycephaly Abnormality of dental enamel Abnormality of the fingernails Broad nasal tip Decreased body weight Patellar hypoplasia Hand oligodactyly Limited elbow movement Pointed chin Abnormality of the nail Abnormality of dental morphology Hemiplegia/hemiparesis Keratitis Irregular hyperpigmentation Pes planus Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Telecanthus Postnatal growth retardation Lambdoidal craniosynostosis Abnormality of the pinna Abnormality of immune system physiology Synophrys Smooth philtrum Telangiectasia of the skin Triangular face Supernumerary nipple Hemivertebrae Short chin Ulnar bowing Midface capillary hemangioma Spasticity Nevus flammeus of the forehead Unilateral radial aplasia Aphalangy of the hands Abnormality of the carpal bones Anomalous splenoportal venous system Carpal bone aplasia Gait disturbance Persistent cloaca Urogenital fistula Limited shoulder movement Flat forehead Perineal fistula Bicoronal synostosis Cognitive impairment Macrodontia Aplasia of metacarpal bones Retinal detachment Sacral dimple Severe intrauterine growth retardation Pulmonary arterial hypertension Abnormal blistering of the skin Brachyturricephaly Metopic synostosis Deviation of finger Congestive heart failure Oral cleft Finger syndactyly Attention deficit hyperactivity disorder Camptodactyly of finger Umbilical hernia Deep palmar crease Cerebral cortical atrophy Cerebral ischemia Long philtrum Supernumerary ribs Psychosis Methylmalonic aciduria Stomatitis Juvenile rheumatoid arthritis Megaloblastic anemia Macrocytic anemia Rheumatoid arthritis Incoordination Abnormality of the skin Meningitis Aciduria Recurrent pneumonia Recurrent bacterial infections Lethargy Microtia Developmental regression Feeding difficulties in infancy Homocystinuria Sinusitis Acidosis Immunodeficiency Decreased antibody level in blood Dehydration Hepatitis Recurrent otitis media Chronic diarrhea Pneumonia Bronchiectasis Fatigue Methylmalonic acidemia Cystathioninemia Cystathioninuria Decreased methionine synthase activity Decreased adenosylcobalamin Megaloblastic bone marrow Decreased methylcobalamin Hyperhomocystinemia Glossitis Conjunctivitis Recurrent skin infections Posteriorly rotated ears Retinal vascular proliferation Recurrent enteroviral infections Gastrointestinal hemorrhage Delayed speech and language development Depressed nasal bridge Reduced visual acuity Kyphosis Hypoplasia of the corpus callosum Broad nail Mitral valve prolapse Abnormal hand morphology Sepsis Ridged fingernail Abnormal chorioretinal morphology Absent hand Clinodactyly Asymmetric growth Crohn's disease Macular degeneration Sagittal craniosynostosis Bronchitis Ataxia Yellow papule Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Medial calcification of large arteries Peau d'orange Calcification of falx cerebri Angioid streaks of the fundus Cerebral hemorrhage Intermittent claudication Recurrent sinusitis Arteriosclerosis External ear malformation Agammaglobulinemia Angina pectoris B lymphocytopenia Abnormality of the sternum Abnormal localization of kidney Abnormality of cardiovascular system morphology Bilateral conductive hearing impairment Postural instability Acute monocytic leukemia Anemia of inadequate production Acute myeloid leukemia Neurofibromas Myelodysplasia Increased intracranial pressure Anorexia Leukemia Buphthalmos Carcinoma Weight loss Headache Malar flattening Blindness Microcephaly Generalized abnormality of skin Paronychia Astrocytoma Inflammatory abnormality of the eye Atelectasis Vitritis Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Burkitt lymphoma Retinoblastoma Fibrosarcoma Glioblastoma multiforme Leukocoria Soft tissue sarcoma Leiomyosarcoma Anisocoria Ocular pain Vitreous hemorrhage Increased IgE level Dystrophic fingernails Pinealoma Redundant skin Growth hormone excess Arthropathy Thickened calvaria Disproportionate tall stature Acne Clubbing Patent foramen ovale Palmoplantar hyperkeratosis Heart block Wormian bones Thickened skin Limitation of joint mobility Arthralgia Coarse facial features Delayed skeletal maturation Patent ductus arteriosus Pectus excavatum Joint swelling Flushing Gingivitis Dilatation Abnormality of the face Eczema Recurrent fractures Joint hyperflexibility Pruritus Papule Deeply set eye Abnormality of the dentition Osteolytic defects of the phalanges of the hand Subperiosteal bone formation Periostosis Eczematoid dermatitis Hip pain Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Iris neovascularization Retinal calcification Rib fusion Broad forehead Hypotelorism Underdeveloped nasal alae Prominent nose Vesicoureteral reflux Bifid uvula Polymicrogyria Facial asymmetry Prominent nasal bridge Renal dysplasia Abnormality of the kidney Low-set, posteriorly rotated ears Hydronephrosis Conductive hearing impairment Narrow mouth Agenesis of corpus callosum Behavioral abnormality Ventricular septal defect Bowing of the long bones Abnormal vertebral morphology Motor delay Oligodactyly Choanal stenosis Coronal craniosynostosis Shallow orbits Carpal synostosis Abnormality of the ureter Aplasia/Hypoplasia of the radius Fibular hypoplasia Short humerus Narrow face Narrow nasal bridge Hallux valgus Hypoplasia of the ulna Tracheoesophageal fistula Trigonocephaly Failure to thrive in infancy Hypoplasia of the radius Abnormality of the metacarpal bones Optic atrophy Forearm reduction defects Pineoblastoma Hip dislocation Growth hormone deficiency Microcornea Hypopigmentation of the skin Short foot Short palm Flat face Nail dystrophy Sparse hair Cutaneous photosensitivity Skeletal dysplasia Kyphoscoliosis Mandibular prognathia Hypogonadism Talipes equinovarus Cryptorchidism Sensorineural hearing impairment Neuroblastic tumors Microdontia Short palpebral fissure Zonular cataract Proportionate short stature Juvenile cataract Annular pancreas Duodenal stenosis Iris atrophy Skin erosion Acantholysis Patellar aplasia Concave nasal ridge Increased number of teeth Telangiectasia Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Pyloric stenosis Dermal atrophy Neoplasm of the skin Congenital hip dislocation Decreased head circumference



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Growth hormone deficiency, related diseases and genetic alterations Delayed speech and language development and Hypertonia, related diseases and genetic alterations Edema and Abdominal distention, related diseases and genetic alterations Low-set ears and Intellectual disability, profound, related diseases and genetic alterations Pain and Corneal dystrophy, related diseases and genetic alterations

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