Abnormal facial shape, and Migraine

Diseases related with Abnormal facial shape and Migraine

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Migraine that can help you solving undiagnosed cases.


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Low match DISTAL 16P11.2 MICRODELETION SYNDROME


Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.

DISTAL 16P11.2 MICRODELETION SYNDROME Is also known as distal monosomy 16p11.2|distal del(16)(p11.2)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL 16P11.2 MICRODELETION SYNDROME

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

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Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Low 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

Low match SAETHRE-CHOTZEN SYNDROME


Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match EHLERS-DANLOS SYNDROME, VASCULAR TYPE


Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Low match FAMILIAL ISOLATED PITUITARY ADENOMA


Mutations in the AIP gene have been found predominantly in growth hormone (GH)-secreting adenomas, but have also been found in adrenocorticotropic hormone (ACTH)-secreting, thyroid hormone (TSH)-secreting, and prolactin (PRL)-secreting pituitary tumors.Pituitary adenomas are benign monoclonal neoplasms of the anterior pituitary gland, accounting for approximately 15% of intracranial tumors. Growth hormone (OMIM )-secreting adenomas, also known as somatotropinomas, which clinically result in acromegaly, comprise about 20% of all pituitary tumors and are the second most common hormone-secreting pituitary tumor after prolactin (OMIM )-secreting tumors, which account for 40 to 45% of pituitary tumors. ACTH-secreting tumors, which result in Cushing disease, and thyrotropin (TSHB )-secreting tumors are much less common. Nonsecreting pituitary tumors, which account for about 33%, can cause symptoms due to local compressive effects of tumor growth (Vierimaa et al., 2006; Georgitsi et al., 2007; Horvath and Stratakis, 2008).Acromegaly is characterized by coarse facial features, protruding jaw, and enlarged extremities (Vierimaa et al., 2006). Familial isolated somatotropinoma (FIS) is defined as the occurrence of at least 2 cases of acromegaly or gigantism in a family that does not exhibit features of other endocrine syndromes. FIS patients tend to have onset about 4 to 10 years earlier than patients with sporadic disease (Gadelha et al., 1999; Horvath and Stratakis, 2008).Cushing disease is characterized by central obesity, moon facies, diabetes, 'buffalo hump,' hypertension, fatigue, easy bruising, depression, and reproductive disorders. Cushing disease is associated with increased morbidity and mortality, mainly due to cardiovascular or cerebrovascular disease and infections (summary by Perez-Rivas et al., 2015).Familial isolated pituitary adenoma (FIPA) and pituitary adenoma predisposition (PAP) are terms referring to families in which 2 or more individuals develop pituitary tumors. Within a family, tumor types can be heterogeneous, with members of the same family having GH-secreting, prolactin-secreting, ACTH-secreting, or nonsecreting adenomas; in contrast, some families are homogeneous with regard to tumor type. Familial isolated somatotropinoma refers specifically to GH-secreting tumors and is usually associated with an acromegaly phenotype. Thus, FIS is a subset of FIPA or PAP (Toledo et al., 2007).Schlechte (2003) discussed prolactinoma in general terms as a clinical, diagnostic, and therapeutic problem. Genetic Heterogeneity of Pituitary AdenomasAlso see pituitary adenoma-2 (PITA2 ), caused by mutation in the GPR101 gene (OMIM ); pituitary adenoma-3 (PITA3 ), caused by somatic activating mutations in the GNAS1 gene (OMIM ); pituitary adenoma-4 (PITA4 ), caused by somatic mutation in the USP8 gene (OMIM ); and pituitary adenoma-5 (PITA5 ), caused by mutation in the CDH23 gene (OMIM ).Patients with the chromosome Xq26.3 microduplication syndrome (OMIM ) have growth hormone-secreting adenomas.Familial acromegaly can also occur in association with multiple endocrine neoplasia type I (MEN1 ), Carney complex (CNC1 ), and the McCune-Albright syndrome (OMIM ).Rostomyan et al. (2015) performed a retrospective analysis of 208 patients with pituitary gigantism due to pituitary adenoma or hyperplasia. Most patients (78.4%) were male, and the median onset of rapid growth was 13 years of age for boys and 11 years for girls. Of the 143 patients who consented to genetic testing, 29% had AIP mutations, and microduplication at Xq26.3 (XLAG ) was present in 2 familial isolated pituitary adenoma kindreds and in 10 sporadic patients. Rostomyan et al. (2015) noted that no genetic etiology was identified in more than 50% of the cases, and that the genetically unexplained cases showed more aggressive disease in terms of invasion, hormone levels, and lower control rates.

FAMILIAL ISOLATED PITUITARY ADENOMA Is also known as somatotropinoma, familial isolated|pagh1|somatotrophinoma, familial|ifs|isolated familial somatotropinoma|fipa|acromegaly due to pituitary adenoma 1|fis

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Cardiomyopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED PITUITARY ADENOMA

Low match EPISODIC ATAXIA TYPE 1


Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Migraine

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Migraine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Macrocephaly Fatigue Cardiomyopathy Premature birth Edema Gliosis Proptosis Cerebellar atrophy Short stature Fever Hepatomegaly Vertigo Joint dislocation Abnormal cerebellum morphology Stroke Developmental regression Vomiting Neoplasm Abnormality of the dentition Hyperhidrosis Motor delay Cognitive impairment Sleep apnea Anemia Scoliosis Sensorineural hearing impairment Kyphosis Ptosis Growth delay Hearing impairment

Rare Symptoms - Less than 30% cases


Growth hormone excess Respiratory distress Irritability Epicanthus Feeding difficulties in infancy Hypoglycemia Acidosis Dementia Encephalopathy Dilatation Dystonia Optic atrophy Myopathy Abnormality of cardiovascular system morphology Respiratory insufficiency Neoplasm of the endocrine system Talipes equinovarus Flexion contracture Telecanthus Protruding ear Feeding difficulties Flat face Spasticity Muscular hypotonia Failure to thrive Ataxia Generalized hypotonia Pituitary prolactin cell adenoma Galactorrhea Dysphagia Abnormality of movement Abnormality of eye movement Intrauterine growth retardation Stage 5 chronic kidney disease Abnormality of skin pigmentation Hip dislocation Brain atrophy Microdontia Abnormal form of the vertebral bodies Hyperlordosis Melanocytic nevus Pneumonia Renal insufficiency Cardiac arrest Congestive heart failure Left ventricular hypertrophy Depressed nasal bridge Dyskinesia Acanthosis nigricans Transient ischemic attack Infantile encephalopathy Bruising susceptibility Cerebral ischemia Encephalitis Kyphoscoliosis Leukoencephalopathy Exercise intolerance Hypertelorism Strabismus Cryptorchidism Coma Metabolic acidosis Cerebral palsy Choreoathetosis Osteoarthritis Blindness Coarse facial features Mandibular prognathia Depressivity Abnormal joint morphology Reduced bone mineral density Increased intracranial pressure Arthritis Myalgia Arthralgia Frontal bossing Broad forehead Visual impairment Chronic kidney disease Low anterior hairline Prominent nasal bridge Abnormality of the kidney Proteinuria Narrow mouth Obesity Delayed speech and language development Hypertrophic cardiomyopathy Brachydactyly Narrow nose Severe global developmental delay Pigmentary retinopathy Cyanosis Febrile seizures Increased serum lactate Generalized myoclonic seizures Progressive cerebellar ataxia Hepatic steatosis Hepatic failure Lactic acidosis Talipes Limb muscle weakness Lethargy Abnormal pyramidal sign Optic disc pallor Retinopathy Abnormality of the liver Pallor Apnea Mental deterioration Abnormality of the eye Muscular hypotonia of the trunk Proximal muscle weakness Clumsiness Respiratory failure Myoclonus Agenesis of corpus callosum Specific learning disability Congenital diaphragmatic hernia Diplopia Adrenal insufficiency Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Postural instability Renal tubular acidosis Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Oral-pharyngeal dysphagia Cardiomegaly Incoordination Ragged-red muscle fibers Shock Pancreatitis Dermal translucency Horizontal nystagmus Pneumothorax Aspiration Leukodystrophy Wide anterior fontanel Muscle cramps Ventricular hypertrophy Coarctation of aorta Babinski sign Muscle stiffness Nausea Craniofacial dysostosis Duplication of the distal phalanx of hand Deviated nasal septum Skull asymmetry Narrow internal auditory canal Mild hearing impairment Craniofacial asymmetry Adrenogenital syndrome Flat forehead Abnormal nasolacrimal system morphology Parietal foramina Congenital adrenal hyperplasia Neoplasm of the breast Lacrimal duct stenosis Proximal radio-ulnar synostosis Lambdoidal craniosynostosis Anterior plagiocephaly Oxycephaly Buphthalmos Abnormal hair pattern Bilateral cleft lip and palate Adrenal hyperplasia Blepharospasm Abnormality of the antihelix Short columella Coronal craniosynostosis Abnormality of the skull Premature closure of fontanelles Abnormality of hair texture Ascending tubular aorta aneurysm Myokymia Myotonia Calf muscle hypertrophy Hyporeflexia Periorbital edema Premature loss of primary teeth Blurred vision Areflexia Patent ductus arteriosus Hernia Poor coordination Atrial septal defect Arterial stenosis Hand clenching Prominent crus of helix Skeletal muscle atrophy Hyperreflexia Peripheral neuropathy Muscle weakness Tip-toe gait Micrognathia Nystagmus Cleft of chin Ocular pain Absent first metatarsal Partial duplication of the distal phalanx of the 2nd finger Partial duplication of the distal phalanx of the 3rd finger Renotubular dysgenesis Aspiration pneumonia Abnormality of the gingiva Abnormal eyelash morphology Arteriovenous fistulas of celiac and mesenteric vessels Narrow nasal bridge Spontaneous pneumothorax Foot acroosteolysis Macule Arterial rupture Uterine rupture Uterine prolapse Aplasia/Hypoplasia of the eyebrow Rheumatoid arthritis Hematochezia Aortic aneurysm Redundant skin Hypoplastic lacrimal duct Coronary artery aneurysm Cystocele Hypokalemia Premature delivery because of cervical insufficiency or membrane fragility Varicose veins Osteolytic defects of the phalanges of the hand Hemothorax Hypermobility of distal interphalangeal joints Abnormality of the urinary system Tinnitus Abnormal intestine morphology Osteolysis Short chin Molluscoid pseudotumors Gingival recession Congenital hip dislocation Fragile skin Subarachnoid hemorrhage Dilatation of the cerebral artery Alopecia of scalp Premature loss of teeth Sprengel anomaly Colonic diverticula Esophageal atresia Internal hemorrhage Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Arterial dissection Pulmonary artery aneurysm Gingivitis Aortic dissection Cigarette-paper scars Periodontitis Arteriovenous fistula Abnormally large globe Absent earlobe Abnormal heart valve morphology Telangiectasia of the skin Abnormal oral frenulum morphology Renovascular hypertension Peripheral arteriovenous fistula Normal pressure hydrocephalus Bilateral cleft lip Epidermal acanthosis Increased CSF lactate Macrovesicular hepatic steatosis Abnormal pupil morphology Exercise-induced lactic acidemia Prolactinoma Increased serum insulin-like growth factor 1 Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Aplasia/Hypoplasia of the abdominal wall musculature Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Bladder diverticulum Biventricular hypertrophy Dorsocervical fat pad Axial dystonia Excessive wrinkled skin Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Gastrointestinal infarctions Dysarthria Cerebral edema Severe lactic acidosis Corpus callosum atrophy Hypertonia Wolff-Parkinson-White syndrome Pain Hydrocephalus Prolactin excess Abdominal obesity Gingival overgrowth Pituitary adenoma Telangiectasia Subcutaneous nodule Abnormality of the face Thin skin Blue sclerae Mitral valve prolapse Abnormality of the skin Abnormal bleeding High, narrow palate Menstrual irregularities Joint hypermobility Moon facies Thin vermilion border Joint hyperflexibility Carious teeth Pituitary growth hormone cell adenoma Deeply set eye Umbilical hernia Glaucoma Alopecia Inguinal hernia Pectus excavatum Hypospadias Reduced consciousness/confusion Aplasia/Hypoplasia of the earlobes Nemaline bodies Cleft palate Shallow orbits Long penis Rigidity Prominent forehead Gait disturbance Tremor Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Dysmenorrhea Deep plantar creases Hypersomnia Paraganglioma Pheochromocytoma Paralysis Anterior hypopituitarism Deep palmar crease Dysuria Abnormality of the endocrine system Abnormal toenail morphology Broad foot Joint swelling Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Acne Respiratory tract infection Neurological speech impairment Widely spaced teeth Malignant hyperthermia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Acute encephalopathy Fasting hypoglycemia Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Ketonuria Generalized dystonia Bulbar palsy Abnormality of the cerebral white matter Opisthotonus Malnutrition Spastic diplegia Intracranial hemorrhage Hemiplegia Hyperkinesis Large fontanelles Abnormality of extrapyramidal motor function Dehydration Neuronal loss in central nervous system Aciduria Delayed myelination Inability to walk Growth abnormality Abnormality of the fingernails Subdural hemorrhage Oval face Vasculitis Meningitis Overgrowth Lymphadenopathy Nausea and vomiting Papule Skin rash EEG abnormality Hepatosplenomegaly Skeletal dysplasia Splenomegaly Moderate receptive language delay Chronic constipation Urticaria Hyperuricemia Aganglionic megacolon Renal agenesis Vesicoureteral reflux Retinal dystrophy Arachnodactyly Attention deficit hyperactivity disorder Autistic behavior Neonatal hypotonia Autism Hyperactivity Rod-cone dystrophy Constipation Purpura Leukocytosis Generalized hirsutism Macrotia Hoarse voice Thickened skin Tall stature Mitral regurgitation Thick lower lip vermilion Full cheeks Macroglossia Tapered finger Wide nose Long face Paresthesia Synophrys Anxiety Diabetes mellitus Elevated erythrocyte sedimentation rate Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Amyloidosis Arthropathy Progressive sensorineural hearing impairment Ketonemia Myopia External ear malformation Malar flattening Low-set, posteriorly rotated ears Cleft lip Intellectual disability, moderate Conductive hearing impairment High forehead Brachycephaly Posteriorly rotated ears Clinodactyly of the 5th finger Abnormal heart morphology Clinodactyly Midface retrusion Syndactyly Abnormality of the skeletal system Microtia Low-set ears Microcephaly Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Craniosynostosis Finger syndactyly Mucopolysacchariduria Abnormality of the genitourinary system Abnormality of digit Vertebral fusion Long nose Delayed cranial suture closure Broad hallux Hallux valgus Open bite Epiphora Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Breast carcinoma Cutaneous syndactyly Toe syndactyly Plagiocephaly Narrow palate Coxa valga Elbow flexion contracture Bilateral single transverse palmar creases Amblyopia Broad thumb Hypotelorism Convex nasal ridge Dental malocclusion Hypoplasia of the maxilla Single transverse palmar crease Facial asymmetry Multiple lentigines Hypoplasia of the capital femoral epiphysis Short neck Nephropathy Lymphopenia Abnormality of epiphysis morphology Heterotopia Abnormal lung morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Nephrotic syndrome Decreased testicular size Waddling gait Lymphoma Neutropenia Bulbous nose Opacification of the corneal stroma Astigmatism Malabsorption Platyspondyly Corneal opacity Autoimmunity Scarring Thin upper lip vermilion Osteopenia Hypothyroidism Thrombocytopenia Recurrent infections Immunodeficiency Diarrhea Bone marrow hypocellularity Atherosclerosis Arteriosclerosis Glomerulopathy Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Abnormality of the vasculature Protuberant abdomen Multiple cafe-au-lait spots Hyperlipidemia Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Emphysema Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Nephritis Glomerulonephritis Epiphyseal dysplasia Glomerulosclerosis Coarse hair Azoospermia Craniofacial disproportion



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