Cardiomyopathy, and B-cell lymphoma

Diseases related with Cardiomyopathy and B-cell lymphoma

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and B-cell lymphoma that can help you solving undiagnosed cases.


Top matches:

Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium 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:

Medium 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 BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low match COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY


Combined immunodeficiency due to STK4 deficiency is a rare, genetic combined T and B cell immunodeficiency characterized by T- and B-cell lymphopenia, hypergammaglobulinemia and intermittent neutropenia. It presents with recurrent opportunistic viral, bacterial and fungal infections involving skin (cutaneous papillomatosis, molluscum contagiosum, skin abscesses, mucocutaneous candidiasis), upper and lower respiratory tract or septicemia. Other clinical features include autoimmune manifestations (autoimmune hemolytic anemia) and congenital heart defects (atrial septal defects, patent foramen ovale, mitral, triscupid and pulmonary valve insufficiency).

COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY Is also known as mst1 deficiency|cid due to stk4 deficiency|stk4 deficiency

Related symptoms:

  • Anemia
  • Atrial septal defect
  • Immunodeficiency
  • Lymphadenopathy
  • Hemolytic anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO STK4 DEFICIENCY

Low match CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, cardiac defects, ectodermal anomalies, gastrointestinal dysfunction, and neurocognitive delay (summary by Rauen et al., 2010).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 4; CFC4

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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 NON-HODGKIN LYMPHOMA


Non-Hodgkin malignant lymphomas(NHL) is a heterogeneous group of malignant tumors of the lymphoid system.

NON-HODGKIN LYMPHOMA Is also known as nhl|non-hodgkin lymphoma

Related symptoms:

  • Neoplasm
  • Leukemia
  • Lymphoma
  • Hodgkin lymphoma
  • B-cell lymphoma


SOURCES: ORPHANET OMIM MENDELIAN

More info about NON-HODGKIN LYMPHOMA

Top 5 symptoms//phenotypes associated to Cardiomyopathy and B-cell lymphoma

Symptoms // Phenotype % cases
Lymphoma Very Common - Between 80% and 100% cases
Leukemia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and B-cell lymphoma. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Anemia Intellectual disability Cafe-au-lait spot Thrombocytopenia Failure to thrive Strabismus Cryptorchidism Abnormality of cardiovascular system morphology Ptosis Astigmatism Epicanthus Atrial septal defect Abnormality of skin pigmentation Hypertelorism Muscular hypotonia Global developmental delay Neutropenia Fine hair Abnormal facial shape Cognitive impairment Depressed nasal bridge Multiple cafe-au-lait spots Hypertension Myopia Pulmonic stenosis Short neck Immunodeficiency Severe short stature Hypertrophic cardiomyopathy Clinodactyly of the 5th finger Abnormal cardiac septum morphology Aganglionic megacolon Hydrocephalus Multiple lentigines Squamous cell carcinoma Hodgkin lymphoma Abnormality of chromosome stability Cataract Micrognathia Nystagmus Abnormality of the skeletal system Generalized hypotonia Prominent forehead Joint hypermobility Pectus carinatum Sparse hair Postnatal growth retardation Low-set, posteriorly rotated ears Macrotia High forehead Splenomegaly Microcephaly Visual impairment Hepatomegaly Anteverted nares Frontal bossing Azoospermia Macrocephaly Delayed speech and language development Delayed skeletal maturation Reduced bone mineral density Abnormal heart morphology Dolichocephaly Malabsorption Motor delay Intrauterine growth retardation Hyperhidrosis Diarrhea Congestive heart failure Abnormality of the dentition Headache Recurrent infections Pneumonia Osteopenia Abnormality of the kidney Abnormal aortic valve morphology Bruising susceptibility Lymphopenia Seizures

Rare Symptoms - Less than 30% cases


Genu valgum Proptosis Short attention span Weight loss Intellectual disability, mild Pulmonary fibrosis Diabetes mellitus Hypoplasia of the zygomatic bone Inflammatory abnormality of the skin Cubitus valgus Coarctation of aorta Respiratory insufficiency Ichthyosis Abnormality of the testis Abnormality of the ulna Chromosome breakage Telecanthus Neurodevelopmental delay Umbilical hernia Pleural effusion Irritability Webbed neck Facial asymmetry Low posterior hairline Erythema Hyperpigmentation of the skin Finger syndactyly Specific learning disability Abnormality of the eye Growth hormone deficiency Lymphedema Abnormality of the cardiovascular system Deep philtrum Poor suck Malar flattening Short nose Failure to thrive in infancy Bilateral ptosis Constipation Narrow forehead Ventriculomegaly Spina bifida Tibial bowing Behavioral abnormality Anal stenosis Overweight Aplastic anemia Depressivity Hypoplastic anemia Non-Hodgkin lymphoma Sacral dimple Neurofibromas Hearing impairment Ataxia Telangiectasia Autism Pruritus Tetralogy of Fallot High palate Blindness Abnormal palate morphology Acute myeloid leukemia EEG abnormality Abnormal bleeding Myeloid leukemia Optic nerve hypoplasia Hydroureter Hyperextensible skin Absent eyebrow Peripheral axonal neuropathy Abnormality of the sternum Carcinoma Sparse eyelashes Abnormality of vision Hypotrichosis Hypopigmentation of the skin Gastrointestinal hemorrhage Decreased antibody level in blood Hypopigmented skin patches Bronchiectasis Dysarthria Alopecia Dilatation Hip dislocation Scarring Inguinal hernia Optic atrophy Abnormal T cell morphology Pectus excavatum Combined immunodeficiency Long philtrum High pitched voice Abnormal form of the vertebral bodies Melanocytic nevus Premature birth Polyhydramnios Cellular immunodeficiency Abnormality of epiphysis morphology Bone marrow hypocellularity Hyperlordosis Low-set ears Feeding difficulties Edema Respiratory distress Subvalvular aortic stenosis Atherosclerosis Posteriorly rotated ears Downslanted palpebral fissures Gastroesophageal reflux Abnormality of the foot Kyphosis Feeding difficulties in infancy Hypothyroidism Renal insufficiency Vomiting Lymphoproliferative disorder Hypermetropia Mucopolysacchariduria Lumbar hyperlordosis Fever Falls Thick vermilion border Joint laxity Bulbous nose Anterior creases of earlobe Paresthesia Hypoplasia of the frontal lobes Laryngeal cleft Generalized ichthyosis Abnormality of the optic disc Optic nerve dysplasia Attention deficit hyperactivity disorder Paralysis Autistic behavior Visual loss Hypoglycemia Kyphoscoliosis Osteoporosis Hyperactivity Abnormal tricuspid valve morphology Glaucoma Patchy alopecia Excessive wrinkled skin Frontal balding Abnormal mitral valve morphology Clitoral hypertrophy Precocious puberty Back pain Sarcoma Abnormality of the optic nerve Delayed CNS myelination Abnormal myocardium morphology Abnormality of refraction Incoordination Deep palmar crease Gastrointestinal dysmotility Breast carcinoma Venous thrombosis Sensorimotor neuropathy Endocarditis Bone pain Hypsarrhythmia Slow-growing hair Thickened helices Mitral valve prolapse Hyperextensibility of the finger joints Abnormality of the pulmonary artery Abnormality of hair texture Cavernous hemangioma Sparse or absent eyelashes Increased nuchal translucency Overgrowth Recurrent fractures Peripheral neuropathy Open bite Functional abnormality of the gastrointestinal tract Acute leukemia Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Spotty hypopigmentation Female infertility Decreased fertility in females IgM deficiency Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Multiple plantar creases IgG deficiency Hemolytic anemia IgA deficiency Telangiectasia of the skin Hand polydactyly Reduced number of teeth Narrow face Sinusitis Abnormality of the face Oral aversion Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Chronic lymphatic leukemia Otitis media Lymphadenopathy Ventricular hypertrophy Pain Inappropriate crying Abnormal ventricular septum morphology Abnormality of lateral ventricle Heat intolerance Acute lymphoblastic leukemia Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Hypophosphatemia Cutaneous T-cell lymphoma Congenital cataract Cerebellar hypoplasia Eyelid fasciculation Hypoplasia of the corpus callosum Abnormality of the auditory canal Recurrent fungal infections Pulmonary insufficiency Verrucae Recurrent viral infections Chronic mucocutaneous candidiasis Right ventricular hypertrophy Autoimmune hemolytic anemia Increased antibody level in blood Patent foramen ovale Multiple palmar creases Recurrent bacterial infections Sensory axonal neuropathy Brain neoplasm Dystrophic fingernails Generalized hyperpigmentation Full cheeks Abdominal distention Palmoplantar keratoderma Sleep disturbance High, narrow palate Infantile spasms Hepatic steatosis Long palpebral fissure Abnormal heart valve morphology Biparietal narrowing Retinal dystrophy Long face Curly hair Submucous cleft hard palate Vesicoureteral reflux Dry skin Underdeveloped supraorbital ridges Abnormality of the cerebral white matter Nail dystrophy Neurological speech impairment Respiratory tract infection Aggressive behavior Hydronephrosis Poor appetite Atopic dermatitis Coarse facial features Hyperkeratosis Cerebral cortical atrophy Encephalopathy Nevus Intestinal malrotation Cerebral atrophy Aplasia/Hypoplasia of the eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Ectropion Scaling skin Sparse eyebrow Brittle hair Malnutrition Redundant skin Relative macrocephaly Palmoplantar hyperkeratosis Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Hemangioma Dental malocclusion Aplasia/Hypoplasia of the corpus callosum Cutis laxa Oculomotor apraxia Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Thickened skin Decreased body weight Open mouth Hemiparesis Myocardial infarction Cardiomegaly Progressive visual loss Hernia Alopecia of scalp Freckling Anomalous pulmonary venous return Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Woolly hair Glioma Nasolacrimal duct obstruction Rhabdomyosarcoma Carcinoid tumor Paraganglioma Thick upper lip vermilion Night sweats Complete atrioventricular canal defect Gastrointestinal stroma tumor Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Large for gestational age Myocardial fibrosis Neoplasm of the endocrine system Meningioma Gangrene Increased reactive oxygen species production Severe vision loss Abnormal hair pattern Renal cell carcinoma Osteomalacia Abnormality of the gastrointestinal tract Fibular bowing Abnormal eyelash morphology Subcutaneous neurofibromas Hypertonia Intellectual disability, severe Ventricular septal defect Dysphagia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Arnold-Chiari type I malformation Spinal neurofibromas Enlarged kidney Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Optic nerve glioma Leiomyosarcoma Neurofibrosarcoma Absent eyelashes Neuroma Vestibular Schwannoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Premature skin wrinkling Epigastric pain Dural ectasia Abnormality of the skin Vertigo Prominent nose Decreased muscle mass Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Proximal placement of thumb Juvenile myelomonocytic leukemia Overfolded helix Abnormality of the thorax Cholelithiasis Bicuspid aortic valve Torticollis Vasculitis Bilateral single transverse palmar creases Aortic valve stenosis Hydrops fetalis Mitral regurgitation Epistaxis Cyanosis Hip dysplasia Wide intermamillary distance Reduced factor XII activity Reduced prothrombin activity Triangular face Abnormality of the metaphysis Portal hypertension Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Reduced tendon reflexes Neoplasm of the skin Accelerated skeletal maturation Hypocalcemia Short ribs Sparse and thin eyebrow Gingival overgrowth Abnormality of retinal pigmentation Rhizomelia Bowing of the long bones Depressed nasal ridge Reduced factor X activity Blue sclerae Abnormality of the ribs Convex nasal ridge Postural instability Small hand Short palm Micromelia Joint hyperflexibility Narrow chest Arthrogryposis multiplex congenita Skeletal dysplasia Brachycephaly Wide nasal bridge Abnormality of the subarachnoid space Esotropia Ascites Cone-shaped epiphysis Waddling gait Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Encephalitis Chronic kidney disease Coarse hair Hyperlipidemia Opacification of the corneal stroma Heterotopia Abnormal lung morphology Intellectual disability, profound Nephrotic syndrome Microdontia Decreased testicular size Migraine Spondyloepiphyseal dysplasia Brain atrophy Gliosis Abnormal cerebellum morphology Nephropathy Stage 5 chronic kidney disease Platyspondyly Corneal opacity Stroke Autoimmunity Developmental regression Proteinuria Thin upper lip vermilion Dementia Cerebellar atrophy Nephritis Focal segmental glomerulosclerosis Highly arched eyebrow Hypoplasia of the capital femoral epiphysis Broad forehead Hepatosplenomegaly Myopathy Gait disturbance Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Arteriosclerosis Emphysema Right ventricular cardiomyopathy Dentinogenesis imperfecta Precocious atherosclerosis Cerebral ischemia Villous atrophy Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Abnormality of the vasculature Protuberant abdomen Glomerulopathy Steatorrhea Hypermelanotic macule Metaphyseal widening Short thorax Infertility Absent thumb Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Ectopic kidney Abnormal renal morphology Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Horseshoe kidney Hypergonadotropic hypogonadism Abnormal vertebral morphology Abnormality of the hypothalamus-pituitary axis Abnormal localization of kidney Short thumb Almond-shaped palpebral fissure Skin rash Protruding ear Polydactyly Recurrent respiratory infections Syndactyly 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 Compensated hypothyroidism Reticulocytopenia Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males 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 Insulin resistance Recurrent urinary tract infections Mesomelia Tracheal stenosis Congenital hypoplastic anemia Spinal dysraphism Large face Hypersplenism Normocytic anemia Abnormal diaphysis morphology Diaphyseal thickening Bronchiolitis Metaphyseal cupping Metaphyseal chondrodysplasia Aplasia/Hypoplasia affecting the eye Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the pancreas Generalized joint laxity Fair hair Abnormal bone ossification Heart block Upper limb undergrowth Thrombocytosis Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Macrocytic anemia Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Limited elbow extension Femoral bowing Neonatal short-limb short stature Abnormally ossified vertebrae Abnormality of the genital system Hypospadias Choanal atresia Short palpebral fissure Pancytopenia Oligohydramnios Sloping forehead Renal agenesis Anal atresia Toe syndactyly Small for gestational age Abnormality of the liver Pes planus Upslanted palpebral fissure Hypogonadism Patent ductus arteriosus Microphthalmia Abnormality of the distal phalanx of finger Biconvex vertebral bodies Narrow vertebral interpedicular distance Long fibula Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Sparse facial hair Severe T-cell immunodeficiency Abnormality of humoral immunity Fatigue Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Cleft palate Hyperreflexia T-cell lymphoma



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