Low-set ears, and Lymphopenia

Diseases related with Low-set ears and Lymphopenia

In the following list you will find some of the most common rare diseases related to Low-set ears and Lymphopenia that can help you solving undiagnosed cases.

Top matches:

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 5; DBA5

BMFS4 is an autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. Some patients may have thrombocytopenia or variable additional nonhematologic features, such as facial dysmorphism, skeletal anomalies, and mild developmental delay. Bone marrow transplantation is curative (summary by Bahrami et al., 2017).For a discussion of genetic heterogeneity of BMFS, see BMFS1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about BONE MARROW FAILURE SYNDROME 4; BMFS4

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Medium match SYNDROMIC DIARRHEA

Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

Medium match VICI SYNDROME

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

Medium 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

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

Top 5 symptoms//phenotypes associated to Low-set ears and Lymphopenia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Anemia Common - Between 50% and 80% cases
Diarrhea Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Low-set ears and Lymphopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Immunodeficiency

Uncommon Symptoms - Between 30% and 50% cases

Respiratory tract infection

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Cellular immunodeficiency Leukopenia Failure to thrive Abnormal facial shape Pneumonia Depressed nasal bridge Decreased antibody level in blood Thrombocytopenia Anteverted nares Recurrent respiratory infections Epicanthus Seizures Cognitive impairment Hepatomegaly Hearing impairment Dilatation Wide nasal bridge Respiratory insufficiency Combined immunodeficiency Narrow mouth Sepsis Scoliosis Malabsorption Generalized hypotonia Hypothyroidism Spasticity Splenomegaly Intellectual disability, mild Cardiomyopathy Hypospadias Abnormality of the skeletal system Neutropenia Cataract Microcephaly Gingival overgrowth Rhizomelia Micrognathia Ventricular septal defect

Rare Symptoms - Less than 30% cases

Hyperlordosis Carcinoma Severe short stature Joint hypermobility Delayed skeletal maturation Respiratory distress Decreased proportion of CD4-positive T cells Leukemia Myopathy Myopia Atrial septal defect Neoplasm Recurrent bacterial infections Skeletal dysplasia Lymphoma Congestive heart failure Severe T-cell immunodeficiency Lumbar hyperlordosis Pectus excavatum Lymphadenopathy Abnormality of the pancreas Motor delay Fair hair Broad forehead Hodgkin lymphoma Abnormality of retinal pigmentation Hypoalbuminemia Hypopigmentation of the skin Polymicrogyria Sensorineural hearing impairment Intellectual disability, moderate Depressed nasal ridge Muscle weakness Fine hair Wide nose Microtia EEG abnormality Sparse hair Neoplasm of the skin Polyhydramnios Muscular hypotonia High palate Prominent forehead Long philtrum Edema Frontal bossing Downslanted palpebral fissures Thrombocytosis Chronic diarrhea Micromelia Hydrocephalus Short palm Hypocalcemia Recurrent upper respiratory tract infections Neurodevelopmental delay Cryptorchidism Narrow chest Malar flattening Hypertonia Hepatosplenomegaly Macrocephaly Tremor Upper limb undergrowth Cerebellar atrophy Bronchitis Ventriculomegaly Small hand Intrauterine growth retardation Feeding difficulties Agammaglobulinemia Convex nasal ridge Macrocytic anemia Decrease in T cell count Flat face Progressive microcephaly Pancytopenia Cerebral calcification Abnormality of the kidney Elevated hepatic transaminase Severe global developmental delay Macroglossia Midface retrusion Umbilical hernia Bronchiectasis Dry skin Abnormality of chromosome stability Arteriovenous malformation Cystic hygroma Melanocytic nevus Multiple lipomas Abnormality of the thyroid gland Increased number of teeth Macule Cutis marmorata Hand polydactyly Intracranial hemorrhage Palpebral edema Dysdiadochokinesis Incoordination Cellulitis Chylothorax Multiple cafe-au-lait spots Prolactin excess Astrocytoma Pleural effusion Abnormality of dental morphology Ectopic kidney Abnormality of the uterus Furrowed tongue Pericardial effusion Hydrocele testis Meningioma Megalencephaly Skin tags Papilledema Acute myeloid leukemia Abnormality of the vasculature Lipoma Scaphocephaly Hashimoto thyroiditis Renal cell carcinoma Goiter Cutaneous finger syndactyly Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Palmoplantar hyperkeratosis Gynecomastia External ear malformation Thyroid lymphangiectasia Headache Kyphosis Skeletal muscle atrophy Brachydactyly Delayed speech and language development Pain Ataxia Pleural lymphangiectasia Pericardial lymphangiectasia Generalized edema Protein-losing enteropathy Mild postnatal growth retardation Proximal muscle weakness Benign neoplasm of the central nervous system Intestinal polyposis Periorbital edema Conical incisor Severe hydrops fetalis Rectal prolapse Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Autism Papule Breast carcinoma Hypoplastic iliac wing Melanoma Hypopigmented skin patches Increased intracranial pressure Hemangioma Coronal craniosynostosis Drooling Cranial nerve paralysis Polysplenia Primary hypothyroidism Edema of the lower limbs Cafe-au-lait spot Exotropia Nausea and vomiting Telangiectasia Subcutaneous nodule Nonimmune hydrops fetalis Sparse axillary hair Broad thumb Intention tremor Overgrowth Hypoproteinemia Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Ovarian cyst Short neck Bone cyst Tibial bowing Generalized joint laxity Tracheal stenosis Heart block Overweight Exocrine pancreatic insufficiency Distal arthrogryposis Esophageal atresia Hypoplasia of the odontoid process Anal stenosis Metaphyseal dysplasia High hypermetropia Abnormality of the hip bone Basal cell carcinoma Aplastic anemia Limited elbow extension Femoral bowing 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 Sacral dimple Reduced tendon reflexes B-cell lymphoma Aplasia/Hypoplasia of the abdominal wall musculature Accelerated skeletal maturation Hypoplastic anemia Susceptibility to chickenpox Flaring of lower rib cage Absent pubertal growth spurt Abnormality of humoral immunity Biconvex vertebral bodies Sparse facial hair Impaired lymphocyte transformation with phytohemagglutinin Metaphyseal dysostosis Non-Hodgkin lymphoma Long fibula Narrow vertebral interpedicular distance Abnormality of the distal phalanx of finger Abnormal T cell morphology Abnormally ossified vertebrae Aplasia/Hypoplasia affecting the eye 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 Metaphyseal chondrodysplasia Abnormal palate morphology Sparse eyelashes Long penis Thyroid adenoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Intestinal polyp Dysplastic gangliocytoma of the cerebellum Ovarian carcinoma Angioid streaks of the fundus Abnormality of the penis Subcutaneous lipoma Colonic diverticula Adenoma sebaceum Neoplasm of the central nervous system Generalized hyperkeratosis Fibroma Hamartomatous polyposis Papilloma Enlarged polycystic ovaries Cavernous hemangioma Trichilemmoma Conjunctival hamartoma Short ribs Pectus carinatum Sparse and thin eyebrow Abnormality of epiphysis morphology Aganglionic megacolon Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Blue sclerae Abnormality of the ribs Gastrointestinal hemorrhage Postural instability Joint hyperflexibility Hypotrichosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Ductal carcinoma in situ Low-set, posteriorly rotated ears Joint laxity Macrotia Brachycephaly Alopecia Constipation Reduced number of teeth Hypertension Visual impairment Strabismus Lobular carcinoma in situ Multiple trichilemmomata Merkel cell skin cancer Pyloric stenosis Granulocytopenia Oligodontia Abnormal heart morphology Hepatic failure Cirrhosis Delayed puberty Pulmonic stenosis Small for gestational age Abnormality of the liver Wide mouth Abnormality of the pinna Jaundice Proptosis Osteoporosis Hernia Premature birth Hypopigmented skin patches on arms Arthralgia/arthritis Metaphyseal sclerosis Progressive spastic quadriplegia Madelung deformity Tubulointerstitial fibrosis Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Barrel-shaped chest Narrow nose Irregular vertebral endplates Bifid uvula Aciduria Autoimmune thrombocytopenia Trichorrhexis nodosa Abnormality of iron homeostasis Galactosuria Humoral immunodeficiency Hypermethioninemia Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Peripheral pulmonary artery stenosis Tetralogy of Fallot Abnormal thrombocyte morphology Villous atrophy Large forehead Woolly hair Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Aortic regurgitation Abnormality of the hair Hepatic fibrosis Vitiligo Recurrent sinusitis Abnormalities of placenta or umbilical cord Protruding tongue Pruritus Paralysis Apnea Encephalopathy Cerebral atrophy Dystonia Impaired T cell function Abnormality of neutrophils Chronic bronchitis Communicating hydrocephalus Shawl scrotum Malnutrition Bradycardia Recurrent pneumonia Sinusitis Otitis media Neurodegeneration High forehead Short nose Noncompaction cardiomyopathy Choanal atresia Eczema Erythroid hypoplasia Reticulocytopenia Increased mean corpuscular volume Leukodystrophy Muscle stiffness Autoimmune hemolytic anemia Recurrent otitis media Basal ganglia calcification Scleroderma Hypermelanotic macule Restrictive ventilatory defect Spastic diplegia Metaphyseal irregularity Rheumatoid arthritis Nephritis Systemic lupus erythematosus Encephalitis Purpura Abnormal lung morphology Spastic tetraplegia Atrophy/Degeneration affecting the brainstem Hepatitis Tetraplegia Hemolytic anemia Abnormality of the cerebral white matter Platyspondyly Autoimmunity Arthritis Arthralgia Kyphoscoliosis CSF lymphocytic pleiocytosis Lymphocytosis Facial paralysis Large placenta Nystagmus Cutaneous syndactyly Abnormal macular morphology Acute bronchitis White matter neuronal heterotopia Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Muscle flaccidity Intellectual disability, severe Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Abnormality of the mandible Pontocerebellar atrophy Abnormal posturing Recurrent fungal infections Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Talipes equinovarus Abnormality of the dentition Hypoplasia of the pons Short foot Abnormal intestine morphology Spina bifida occulta Narrow palate Horseshoe kidney Bilateral single transverse palmar creases Joint contracture of the hand Hydrops fetalis Lymphedema Pachygyria Vesicoureteral reflux Ascites Delayed eruption of teeth Hirsutism Syndactyly Smooth philtrum Abnormality of the foot Finger syndactyly Short philtrum Camptodactyly of finger Craniosynostosis Camptodactyly Hydronephrosis Conductive hearing impairment Retrognathia Glaucoma Hyperactivity Chronic mucocutaneous candidiasis Renal tubular dysfunction Cleft palate Cleft lip Triangular face Sleep disturbance High, narrow palate Thick vermilion border Pulmonary hypoplasia Cleft upper lip Congenital cataract Dilated cardiomyopathy Joint stiffness Postnatal growth retardation Feeding difficulties in infancy Muscular hypotonia of the trunk Narrow forehead Hypertrophic cardiomyopathy Coarse facial features Acidosis Respiratory failure Cerebral cortical atrophy Rod-cone dystrophy Agenesis of corpus callosum Cerebellar hypoplasia Optic atrophy Hyperreflexia Peripheral neuropathy Ptosis Delayed myelination Hypotelorism Ocular albinism Congenital sensorineural hearing impairment Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Albinism Poor suck Ventricular hypertrophy Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Increased body weight Aspiration Decreased liver function Decreased body weight Left ventricular hypertrophy Heterotopia Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Pulmonary lymphoma


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