Micrognathia, and Lymphopenia

Diseases related with Micrognathia and Lymphopenia

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

Top matches:

IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Low 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

GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Other less relevant matches:

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 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

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 CHARGE SYNDROME

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).

CHARGE SYNDROME Is also known as charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies|hhs|charge association|coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome|hall

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHARGE SYNDROME

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Low 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

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Top 5 symptoms//phenotypes associated to Micrognathia and Lymphopenia

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

Other less frequent symptoms

Patients with Micrognathia and Lymphopenia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia

Common Symptoms - More than 50% cases

Recurrent infections

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

High palate Depressed nasal bridge Generalized hypotonia Intrauterine growth retardation Microcephaly Hypospadias Scoliosis Cryptorchidism Cataract Hypothyroidism Nystagmus Postnatal growth retardation Cleft palate Diarrhea Otitis media Epicanthus Prominent nose Abnormality of the skeletal system Strabismus Motor delay Respiratory distress Umbilical hernia Neoplasm Ptosis Lymphoma Leukopenia Joint hypermobility Reduced number of teeth Cranial nerve paralysis Prominent forehead Brachydactyly Ventriculomegaly Chronic diarrhea Growth hormone deficiency Hydrocephalus Dilatation Atrial septal defect Cafe-au-lait spot Frontal bossing Intellectual disability, moderate Choanal atresia Neutropenia Cleft upper lip Anal atresia Leukemia Small for gestational age Prominent nasal bridge Muscular hypotonia Downslanted palpebral fissures Retrognathia Respiratory failure Thrombocytopenia Optic atrophy Muscle weakness Telangiectasia Ataxia Feeding difficulties in infancy Sensorineural hearing impairment Delayed puberty Anteverted nares Narrow mouth Facial asymmetry Macrocephaly Decrease in T cell count Malar flattening Recurrent respiratory infections Respiratory tract infection Clinodactyly of the 5th finger Decreased antibody level in blood Narrow forehead Sinusitis Severe global developmental delay Low-set ears Combined immunodeficiency Upslanted palpebral fissure Microphthalmia Abnormality of chromosome stability Cellular immunodeficiency Bronchitis Hernia

Rare Symptoms - Less than 30% cases

Abnormality of retinal pigmentation Progressive microcephaly Absent radius Aspiration Abnormality of the genital system External ear malformation Hyperreflexia Abnormality of vision Hypopigmentation of the skin Laryngomalacia Renal agenesis Highly arched eyebrow Abnormality of the urinary system Recurrent bacterial infections Abnormality of immune system physiology Iris coloboma Tetralogy of Fallot Preauricular skin tag Short thumb Coarse facial features Hypoplasia of the ulna Cardiomyopathy Myopathy Congestive heart failure Long philtrum Feeding difficulties Cerebellar hypoplasia Rod-cone dystrophy Hypertrophic cardiomyopathy High, narrow palate Cleft lip Hemivertebrae Horseshoe kidney Chronic mucocutaneous candidiasis Weak cry Tracheoesophageal fistula Wide nose Thick vermilion border Polymicrogyria Ventricular septal defect Recurrent fungal infections Patent ductus arteriosus Acute myeloid leukemia Abnormality of skin pigmentation Astigmatism Finger syndactyly Arteriovenous malformation Furrowed tongue Abnormality of the uterus Visual loss T-cell lymphoma Hand polydactyly Pes planus Mandibular prognathia Diabetes mellitus Visual impairment Abnormality of cardiovascular system morphology Behavioral abnormality Blindness Dysphagia Abnormal aortic valve morphology Multiple cafe-au-lait spots Intracranial hemorrhage Granulocytopenia Kyphosis Decreased proportion of CD4-positive T cells Abnormality of the thymus Myopia Abnormal cardiac septum morphology Paralysis Abnormality of the eye Gastroesophageal reflux Aplasia/Hypoplasia of the earlobes Headache Hypopigmented skin patches Pectus excavatum Autism Hypogonadism Carcinoma Abnormality of the kidney Hypoplasia of the maxilla Recurrent skin infections Exotropia Abnormal heart morphology Squamous cell carcinoma Open mouth Hydronephrosis Attention deficit hyperactivity disorder Neurodegeneration Cognitive impairment Truncal obesity External genital hypoplasia Severe short stature Low anterior hairline Anemia Deeply set eye Recurrent urinary tract infections Recurrent pneumonia Inflammatory abnormality of the skin High forehead Eczema Sloping forehead Convex nasal ridge Progressive visual loss Bronchiectasis Skeletal muscle atrophy Sepsis Macroglossia Eosinophilia Obesity Short palpebral fissure Abnormal eyelid morphology Abnormality of the dentition Agenesis of corpus callosum Macrotia Increased body weight Short philtrum Recurrent sinopulmonary infections B lymphocytopenia B-cell lymphoma Recurrent bronchitis Delayed eruption of teeth Respiratory insufficiency Anal stenosis Hearing abnormality Hand monodactyly Parathyroid hypoplasia Abnormality of the inner ear Parachute mitral valve Abnormal soft palate morphology Aplasia/Hypoplasia of the thymus Unilateral facial palsy Bifid femur Posterior choanal atresia Reduced visual acuity Asthma Neonatal hypotonia Thin upper lip vermilion Edema Hypoplasia of the semicircular canal Kyphoscoliosis Recurrent fractures Hypoplasia of the cochlea Irregular hyperpigmentation Arthritis Craniosynostosis Osteoporosis Pigmentary retinopathy Aciduria Short metacarpal Microcornea Single transverse palmar crease Tapered finger Retinal detachment Osteopenia Erythema Small hand Retinal dystrophy Thick eyebrow Retinal degeneration Joint laxity Arachnodactyly Skin rash Smooth philtrum Joint hyperflexibility Genu valgum Synophrys Neurological speech impairment Cough Stroke Square face Retinopathy Pruritus Wide mouth Protruding ear Nyctalopia Lacrimation abnormality Abnormal palmar dermatoglyphics Severe viral infections Duodenal atresia Eyelid coloboma Abnormally large globe Choanal stenosis Fractures of the long bones Eczematoid dermatitis Abnormal cranial nerve morphology Hypoplasia of the zygomatic bone Recurrent bacterial skin infections Down-sloping shoulders Onychomycosis Broad neck Double outlet right ventricle Esophageal atresia Retinal coloboma Recurrent Staphylococcus aureus infections Recurrent candida infections Broad palm Mixed hearing impairment Opportunistic infection Lung abscess Vestibular dysfunction Mask-like facies Anal canal squamous carcinoma Aplasia/Hypoplasia of the cerebellum Bifid scrotum Anophthalmia Squamous cell carcinoma of the vulva Persistence of primary teeth Facial paralysis Abnormality of bone mineral density Skin ulcer Abnormality of the adrenal glands Aortic arch aneurysm Bilateral choanal atresia Lop ear Abnormality of the cervical spine Narrow naris Arrhinencephaly Dimple chin Interrupted aortic arch Abnormality of female internal genitalia Microphallus Mitral valve prolapse Thick lower lip vermilion Urticaria Red hair Chronic otitis media Recurrent sinusitis Peripheral pulmonary artery stenosis Atopic dermatitis Hemihypertrophy Gonadotropin deficiency Verrucae Anterior hypopituitarism Increased IgE level Aqueductal stenosis Labial hypoplasia Abnormality of tibia morphology Hyposmia Tics Constipation Sandal gap Decreased fetal movement Aplasia/Hypoplasia of the iris Duplicated collecting system Meckel diverticulum Insulin resistance Low-grade fever Aganglionic megacolon Pancytopenia Oligohydramnios Bruising susceptibility Vertigo Abnormality of the foot Obsessive-compulsive behavior Toe syndactyly Dolichocephaly Hip dislocation Abnormality of the liver Duodenal stenosis Complete duplication of thumb phalanx Irritability Proptosis Weight loss Renal insufficiency Fatigue Fever Hepatomegaly Slender toe Cat cry Hypoplastic philtrum Partial duplication of thumb phalanx Childhood-onset truncal obesity Macrodontia of permanent maxillary central incisor Abnormal vertebral morphology Spina bifida Thick corpus callosum Bicornuate uterus Aplasia/Hypoplasia of the radius Abnormality of blood and blood-forming tissues Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Chromosome breakage Abnormality of the ulna Abnormality of the upper limb Aplastic anemia Glucose intolerance Triphalangeal thumb Abnormality of the testis Abnormality of the thumb Myelodysplasia Hypergonadotropic hypogonadism Reticulocytopenia Bone marrow hypocellularity Primary hypothyroidism Abnormality of nervous system morphology Type I diabetes mellitus Abnormal aortic morphology Azoospermia Renal hypoplasia/aplasia Abnormality of femur morphology Reduced bone mineral density Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Hyperinsulinemia Prominent eyelashes High-pitched cry High myopia Rheumatoid arthritis Disproportionate tall stature Absent testis Compensated hypothyroidism Almond-shaped palpebral fissure Cerebral hemorrhage Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Neoplasm of head and neck Abnormality of dental morphology Aplasia/Hypoplasia of the uvula Constriction of peripheral visual field Cubitus valgus Aplasia/Hypoplasia of fingers Abnormality of the hip bone Failure to thrive in infancy Radioulnar synostosis Precocious puberty Short metatarsal Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Venous thrombosis Wide nasal bridge Intellectual disability, progressive Gingival overgrowth Long eyelashes Tall stature Clumsiness Lumbar hyperlordosis Hypoplastic anemia Narrow nasal bridge Chorioretinal dysplasia Tapetoretinal degeneration Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Clubbing of toes Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Bull's eye maculopathy Macrodontia Iris atrophy Thick hair Decreased fertility in males Recurrent aphthous stomatitis Chromosomal breakage induced by crosslinking agents Gingivitis Celiac disease Subcapsular cataract Thoracic scoliosis Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Microglossia Abnormality of the larynx Vocal cord paralysis Facial hypotonia Misalignment of teeth Deep venous thrombosis Macular edema Bone spicule pigmentation of the retina Cupped ear Long penis Chorioretinal coloboma Hypertonia Cerebellar vermis hypoplasia Ventricular hypertrophy Hypotelorism Delayed myelination Triangular face Sleep disturbance Pulmonary hypoplasia Congenital cataract Dilated cardiomyopathy Joint stiffness Muscular hypotonia of the trunk EEG abnormality Acidosis Cerebral cortical atrophy Cerebellar atrophy Heterotopia Peripheral neuropathy Spasticity Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract Pollakisuria Abnormal hair quantity Rhabdomyosarcoma Glioma Medulloblastoma Progressive neurologic deterioration Left ventricular hypertrophy Acute lymphoblastic leukemia Aspiration pneumonia Recurrent aspiration pneumonia Abnormality of the mandible Pontocerebellar atrophy Abnormal posturing Hypopigmentation of the fundus Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Hypoplasia of the pons Fair hair Renal tubular dysfunction Ocular albinism Depressed nasal tip Severe failure to thrive IgG deficiency Decreased body weight Severe sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Renal tubular acidosis Centrally nucleated skeletal muscle fibers Macular atrophy Neurodevelopmental delay Albinism Congenital sensorineural hearing impairment Poor suck Adducted thumb Infantile muscular hypotonia Aplasia/Hypoplasia of the corpus callosum Decreased liver function Acute leukemia Neuroblastoma Abnormality of the cerebellar vermis Protruding tongue Abnormal lung morphology Osteoarthritis Depressed nasal ridge Blue sclerae Hypoplasia of penis Microdontia Hypoglycemia Delayed skeletal maturation Impaired T cell function Abnormality of neutrophils Chronic bronchitis Communicating hydrocephalus Agammaglobulinemia Shawl scrotum Malnutrition Short toe Flat face Malabsorption Short nose Pulmonary artery stenosis Severe combined immunodeficiency Natal tooth Myopathic facies Psoriasiform dermatitis Wormian bones Spastic tetraplegia Tetraplegia Hirsutism Posteriorly rotated ears Absent speech Hypohidrosis Hypercholesterolemia Autoimmune hemolytic anemia Mental deterioration Abnormality of the musculature Freckling Long nose Non-midline cleft lip Abnormality of neuronal migration Premature ovarian insufficiency Deep philtrum Cachexia Abnormality of the hair Abnormality of the face Primary amenorrhea Cutaneous photosensitivity Amenorrhea Hemolytic anemia Abnormality of the nervous system Short long bone Hyperactivity Short neck Lymphoid interstitial pneumonia Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Delayed menarche Immune dysregulation Concave nasal ridge Abnormality of the elbow Underdeveloped supraorbital ridges Proportionate short stature Prematurely aged appearance High pitched voice Keratitis Abnormality of the optic disc Muscle flaccidity Overfolded helix Pseudopapilledema 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 Neoplasm of the thyroid gland Transitional cell carcinoma of the bladder Acrokeratosis Mucosal telangiectasiae Progressive macrocephaly Syndactyly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp 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 Talipes equinovarus Midface retrusion Hamartomatous polyposis Abnormality of the ribs Anosmia Abnormality of the outer ear Cutaneous syndactyly Torticollis Plagiocephaly Holoprosencephaly Short chin Hypogonadotrophic hypogonadism Hypocalcemia Narrow face Renal dysplasia Omphalocele Small nail Renal hypoplasia Dandy-Walker malformation Micropenis Webbed neck Vesicoureteral reflux Talipes Pulmonic stenosis Pectus carinatum Microtia Coloboma Abnormality of the pinna Apnea Low-set, posteriorly rotated ears Facial palsy Conductive hearing impairment Photophobia Polyhydramnios Fibroma Papilloma Abnormal macular morphology Intellectual disability, mild Increased intracranial pressure Hemangioma Drooling Neoplasm of the skin Gynecomastia Subcutaneous nodule Broad thumb Intention tremor Overgrowth Abnormal cerebellum morphology Palmoplantar keratoderma Nausea and vomiting Papule Proximal muscle weakness Tremor Breast carcinoma Delayed speech and language development Pain Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Melanoma Goiter Enlarged polycystic ovaries Hashimoto thyroiditis Cavernous hemangioma Bone cyst Intestinal polyposis Ovarian cyst Astrocytoma Hydrocele testis Meningioma Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Lipoma Scaphocephaly Renal cell carcinoma Palmoplantar hyperkeratosis Hodgkin lymphoma Thyroiditis Ovarian neoplasm Hyperthyroidism Hamartoma Cellulitis Cystic hygroma Multiple lipomas Abnormality of the thyroid gland Macule Cutis marmorata Melanocytic nevus Dysdiadochokinesis Incoordination Impaired neutrophil chemotaxis


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