Cleft palate, and Hodgkin lymphoma

Diseases related with Cleft palate and Hodgkin lymphoma

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


Top matches:

Medium match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match COWDEN SYNDROME


Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Low match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

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Other less relevant 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 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

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

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1


Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

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

Top 5 symptoms//phenotypes associated to Cleft palate and Hodgkin lymphoma

Symptoms // Phenotype % cases
Lymphoma Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Thrombocytopenia Neoplasm Anemia Myopia Recurrent infections Depressed nasal bridge Strabismus Hydrocephalus Micrognathia Immunodeficiency Hypertelorism Growth delay Pneumonia Hydronephrosis Leukemia Dilatation Microcephaly Seizures Lymphopenia Prominent forehead Fine hair Low-set, posteriorly rotated ears Convex nasal ridge Joint hyperflexibility Small hand Malabsorption Decreased antibody level in blood Respiratory insufficiency Epicanthus Intrauterine growth retardation Cellulitis Chronic diarrhea High palate Prominent nasal bridge Carcinoma Cataract Diarrhea Aplasia/Hypoplasia of the thumb Prominent nose Anal stenosis Craniosynostosis Wide nasal bridge Motor delay Hypospadias Cryptorchidism Skin rash Intellectual disability, moderate Nystagmus Failure to thrive Ataxia Short neck Global developmental delay Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Cafe-au-lait spot Telangiectasia Eczema Cutis marmorata Neoplasm of the skin Increased intracranial pressure Pancytopenia Delayed eruption of teeth Dysgammaglobulinemia Acute myeloid leukemia Broad thumb Joint hypermobility Abnormality of the face Narrow mouth Narrow face Malar flattening Headache Chromosome breakage Osteosarcoma Pectus excavatum Inflammatory abnormality of the eye Abnormality of the hair Abnormality of the kidney Papule Acute lymphoblastic leukemia Polymicrogyria Abnormality of cardiovascular system morphology Hypoplasia of the maxilla Proptosis Autoimmune hemolytic anemia Astrocytoma Bronchiectasis Abnormal cardiac septum morphology B-cell lymphoma Dry skin Postural instability Cleft upper lip Bowing of the long bones Fair hair Sparse and thin eyebrow Sparse hair Sparse eyelashes Sacral dimple Vesicoureteral reflux Hypoplastic toenails Recurrent urinary tract infections Renal dysplasia Choanal atresia Spina bifida occulta Toe syndactyly Sparse scalp hair Recurrent respiratory infections Cellular immunodeficiency Low anterior hairline Cutaneous photosensitivity Sloping forehead Hemolytic anemia Anal atresia Attention deficit hyperactivity disorder Visual impairment Abnormality of chromosome stability Abnormality of the dentition Hepatomegaly Fever Splenomegaly Delayed skeletal maturation Blepharophimosis Brachycephaly Macrotia Frontal bossing Abnormality of skin pigmentation Downslanted palpebral fissures Postnatal growth retardation Thick eyebrow Hypopigmented skin patches Upslanted palpebral fissure Coarse hair Constipation Micropenis Incoordination Abnormal palate morphology Autism Anteverted nares Protruding ear Aganglionic megacolon Wide mouth Hypopigmentation of the skin Deeply set eye Skeletal muscle atrophy Brachydactyly Generalized hypotonia Cognitive impairment Muscular hypotonia Abnormal facial shape Aplasia/Hypoplasia of the corpus callosum Pain Muscle weakness Microdontia Hydroureter Keratitis Hand oligodactyly Proximal placement of thumb Lambdoidal craniosynostosis Reduced number of teeth Renal hypoplasia/aplasia Ectodermal dysplasia Renal agenesis Hypoplasia of dental enamel Split hand Cutaneous syndactyly Growth hormone deficiency Limited elbow movement Aplasia/Hypoplasia of the skin Hypogonadotrophic hypogonadism Hypohidrosis Abnormality of dental enamel Blepharitis Patellar hypoplasia Generalized hypopigmentation Bladder diverticulum Aplasia/Hypoplasia of the nipples Slow-growing hair Poikiloderma Entropion Lacrimation abnormality Anterior hypopituitarism Hypoplasia of the thymus Rib fusion Sparse pubic hair Dysuria Sparse axillary hair Bilateral conductive hearing impairment Anterior plagiocephaly Corneal erosion Taurodontia Blue irides Sagittal craniosynostosis Abnormal localization of kidney Depressed nasal tip Split foot Xerostomia Nevus External ear malformation Ectrodactyly Oxycephaly Hypoplastic nipples Aplasia/Hypoplasia of the patella Abnormality of the carpal bones Hypodontia Ocular pain Fibrosarcoma Glioblastoma multiforme Malar rash Leukocoria Aplasia of metacarpal bones Bicoronal synostosis Soft tissue sarcoma Perineal fistula Limited shoulder movement Leiomyosarcoma Anisocoria Persistent cloaca Carpal bone aplasia Vitritis Vitreous hemorrhage Midface capillary hemangioma Retinoblastoma Anomalous splenoportal venous system Buphthalmos Acute monocytic leukemia Anemia of inadequate production Aphalangy of the hands Uveitis Neurofibromas Myelodysplasia Sarcoma Anorexia Burkitt lymphoma Histiocytoma Oral cleft Hyperkeratosis Ulnar bowing Brachyturricephaly Metopic synostosis Carious teeth Choanal stenosis Nail dystrophy Finger syndactyly Urogenital fistula Microtia Flat forehead Cleft lip Bilateral radial aplasia Photophobia Polydactyly Liposarcoma Syndactyly Flexion contracture Sensorineural hearing impairment Neuroblastic tumors Pineoblastoma Retinal calcification Pinealoma Iris neovascularization Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Rectovaginal fistula Carpal synostosis Central diabetes insipidus Large fontanelles Bifid uvula Immune dysregulation Lymphoproliferative disorder Pulmonary infiltrates Underdeveloped nasal alae IgG deficiency Pericardial effusion Elevated erythrocyte sedimentation rate Pleural effusion Hypotelorism Ascites Lymphadenopathy Autoimmunity Hepatosplenomegaly Stomatitis Progressive vitiligo Mastoiditis Malar prominence Short thumb Abnormal vertebral morphology Abnormality of the metacarpal bones Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Decrease in T cell count Facial asymmetry Broad forehead Hypoplasia of the radius Abnormality of neutrophils Abnormality of the fingernails Metatarsus adductus Wide anterior fontanel Asthma Delayed cranial suture closure Submucous cleft hard palate Underdeveloped supraorbital ridges Hypoparathyroidism Short foot Telecanthus Abnormality of the antihelix Sparse lateral eyebrow Rectal prolapse Clinodactyly of the 5th finger Recurrent aphthous stomatitis Abnormality of female external genitalia Abnormality of thumb phalanx Optic atrophy Ventricular septal defect Ptosis Generalized lymphadenopathy Behavioral abnormality Short nose Granulomatosis Hemophagocytosis Abnormal heart morphology Histiocytosis Agenesis of corpus callosum Conductive hearing impairment Abnormal hair quantity Glioma Coronal craniosynostosis Abnormality of the middle ear Narrow nasal bridge Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Mesoaxial polydactyly Abnormality of the inner ear Aplasia/Hypoplasia of the breasts Megacystis Urethral atresia Dacryocystitis Ureterocele Anteriorly placed anus Short humerus Respiratory failure Oligodactyly Absent radius Nail pits Fibular hypoplasia Aplasia/Hypoplasia of the radius Abnormality of the nasopharynx Duplicated collecting system Abnormality of the ureter Sandal gap Shallow orbits Thin nail Urethral stenosis Selective tooth agenesis Hyperactivity Retrognathia Medulloblastoma Non-midline cleft lip Recurrent sinopulmonary infections Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Hearing abnormality Failure to thrive in infancy Neuroblastoma Trigonocephaly Tracheoesophageal fistula Abnormality of the musculature Freckling Hypoplasia of the ulna Long nose Combined immunodeficiency Abnormality of the nervous system Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Sinusitis Primary amenorrhea Amenorrhea Otitis media Neurodegeneration Hallux valgus Absent thumb Small for gestational age Mental deterioration Rhabdomyosarcoma Metaphyseal chondrodysplasia Weight loss Abnormal cerebellum morphology Dysdiadochokinesis Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hemangioma Drooling Cranial nerve paralysis Gynecomastia Exotropia Subcutaneous nodule Intention tremor Overgrowth Macroglossia Palmoplantar keratoderma Hand polydactyly Nausea and vomiting Proximal muscle weakness Hypothyroidism Kyphosis Intellectual disability, mild Myopathy Atrial septal defect Tremor Macrocephaly Delayed speech and language development Low-set ears Overhanging nasal tip Triangular nasal tip Broad fingertip Intracranial hemorrhage Melanocytic nevus Narrow foot Megalencephaly Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Bone cyst Intestinal polyposis Ovarian cyst Abnormality of the uterus Furrowed tongue Arteriovenous malformation Hydrocele testis Meningioma Skin tags Macule Ovarian neoplasm Abnormality of the thyroid gland Multiple lipomas Cystic hygroma Multiple cafe-au-lait spots Hamartoma Hyperthyroidism Thyroiditis Prolactin excess Renal cell carcinoma Hashimoto thyroiditis Scaphocephaly Lipoma Abnormality of the vasculature Papilledema Intermittent hyperventilation Failure of eruption of permanent teeth Neoplasm of the central nervous system Apnea Specific learning disability Wide intermamillary distance Full cheeks Abdominal distention Sleep disturbance Single transverse palmar crease Tapered finger Thick vermilion border Astigmatism Severe global developmental delay Neurological speech impairment Short philtrum Autistic behavior Abnormality of the pinna Aggressive behavior Narrow forehead Encephalopathy Feeding difficulties Fatigue Talipes equinovarus Hypoplasia of the corpus callosum Intellectual disability, severe Absent speech Clinodactyly Anxiety Pes cavus Gait ataxia Mandibular prognathia Gastroesophageal reflux Coarse facial features Pes planus Cyanosis Thick lower lip vermilion Small cerebral cortex Hyperventilation Square face Large beaked nose Happy demeanor Pes valgus Abnormal pattern of respiration Thickened helices Breathing dysregulation Abnormality of the helix Clubbing of fingers Echolalia Misalignment of teeth Esophagitis Acrocyanosis Hiatus hernia Dysphasia Open mouth Sleep apnea Postnatal microcephaly Truncal ataxia Abnormal autonomic nervous system physiology Finger clinodactyly Intellectual disability, progressive Widely spaced teeth Mutism Aphasia Short metatarsal Self-injurious behavior Clubbing Cupped ear Overlapping toe Supernumerary nipple Generalized hyperkeratosis Decreased proportion of CD4-positive T cells Glaucoma Abnormality of the pancreas Abnormal bone ossification Neonatal short-limb short stature Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Mucopolysacchariduria Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Aplastic anemia Hypoplastic anemia Generalized joint laxity Tracheal stenosis Heart block Upper limb undergrowth Overweight Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Abnormally ossified vertebrae Abnormal T cell morphology Basal cell carcinoma Recurrent fractures Visual loss Vomiting Blindness Generalized abnormality of skin Paronychia Increased IgE level Atelectasis Dystrophic fingernails Gingivitis Skin vesicle Osteomyelitis Chronic otitis media Eosinophilia Skin ulcer Pruritus Abnormality of the distal phalanx of finger Severe T-cell immunodeficiency Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Biconvex vertebral bodies Cough Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Osteopenia Tibial bowing Limited elbow extension Adenoma sebaceum Neoplasm of the thyroid gland Severe short stature Alopecia Cardiomyopathy Hypertension Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Transitional cell carcinoma of the bladder EEG abnormality Thyroid adenoma Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Varicocele Acrokeratosis Follicular thyroid carcinoma Endometrial carcinoma Colorectal polyposis Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Skeletal dysplasia Joint laxity Femoral bowing Abnormality of retinal pigmentation Mesomelia Short thorax Squamous cell carcinoma Cone-shaped epiphysis Metaphyseal widening Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Reduced tendon reflexes Accelerated skeletal maturation Hypocalcemia Short ribs Gingival overgrowth Rhizomelia Hyperlordosis Neutropenia Pectus carinatum Arthrogryposis multiplex congenita Hypotrichosis Narrow chest Micromelia Short palm Gastrointestinal hemorrhage Abnormality of epiphysis morphology Abnormality of the ribs Lumbar hyperlordosis Blue sclerae Depressed nasal ridge Abnormality of the metaphysis Abnormal form of the vertebral bodies Unilateral radial aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Hypoplasia of penis, related diseases and genetic alterations Myopia and Short neck, related diseases and genetic alterations Myopia and Atrial septal defect, related diseases and genetic alterations Dysarthria and Tetraparesis, related diseases and genetic alterations

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