Immunodeficiency, and High myopia

Diseases related with Immunodeficiency and High myopia

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

Top matches:

High match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Other less relevant matches:

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

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

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.

ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME Is also known as ichthyosis follicularis-atrichia-photophobia syndrome|ifap syndrome|ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cle

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS FOLLICULARIS-ALOPECIA-PHOTOPHOBIA SYNDROME

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

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

Top 5 symptoms//phenotypes associated to Immunodeficiency and High myopia

Symptoms // Phenotype % cases
Myopia Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Immunodeficiency and High myopia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Kyphosis

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly Muscular hypotonia Cognitive impairment Growth delay Motor delay Generalized hypotonia Depressed nasal bridge Dilatation Abnormal facial shape Nystagmus Hip dislocation Abnormality of dental enamel Cataract Melanocytic nevus Short stature Strabismus Macrotia Abnormality of the dentition Intrauterine growth retardation Short neck Low-set ears Abnormality of the kidney Delayed speech and language development Hernia Hydrocele testis Malar flattening Midface retrusion Myopathy Behavioral abnormality Inguinal hernia Lymphopenia Platyspondyly Micrognathia Osteopenia Intellectual disability, mild Multiple cafe-au-lait spots Autism Ventriculomegaly Hypothyroidism Pain Round face Decreased antibody level in blood Epidermal acanthosis Gliosis Hearing impairment Microcephaly Anteverted nares Feeding difficulties Headache Epicanthus Narrow mouth Thin upper lip vermilion Hyperkeratosis Kyphoscoliosis Frontal bossing Microdontia Skeletal dysplasia Renal cyst Astigmatism Corneal opacity

Rare Symptoms - Less than 30% cases

Increased intracranial pressure Anxiety Melanoma Brachydactyly Hyperactivity Pneumonia Mixed hearing impairment Abnormality of the hair Talipes equinovarus Spasticity Neutropenia Respiratory distress Abnormal lung morphology Bronchitis Hypoplasia of dental enamel Renal insufficiency Malabsorption Cardiomyopathy Thin eyebrow Prominent forehead Narrow palpebral fissure Depressivity Photophobia Hypermetropia Attention deficit hyperactivity disorder Amblyopia Wide nasal bridge Gastroesophageal reflux Autistic behavior Joint hypermobility Hypoplasia of the maxilla Hydrocephalus Bowing of the long bones Short nose Failure to thrive Diarrhea Dementia Developmental regression Scarring Abnormal cerebellum morphology Brain atrophy Lymphoma Opacification of the corneal stroma Abnormality of the vasculature Cellular immunodeficiency Intellectual disability, severe Combined immunodeficiency Delayed skeletal maturation Recurrent respiratory infections Umbilical hernia Mental deterioration Respiratory tract infection Papule Palmoplantar keratoderma Macroglossia Recurrent bacterial infections Ataxia Muscle weakness Cerebellar atrophy Unilateral renal agenesis Obesity Microretrognathia Severe short stature Arthritis Hyperlordosis Smooth philtrum Flat face Waddling gait Nail dysplasia Depressed nasal ridge Skeletal muscle atrophy Broad thumb Abnormality of the hand Hand polydactyly Cystic hygroma Protuberant abdomen Cleft palate Hypertension Atrial septal defect Microphthalmia Polydactyly Broad forehead Talipes Psychosis Hemivertebrae Cryptorchidism Congestive heart failure Enlarged polycystic ovaries Nevus Abnormal form of the vertebral bodies Joint stiffness Arteriovenous malformation Intellectual disability, moderate Carcinoma Proptosis Polymicrogyria Abdominal distention Sudden cardiac death Generalized hyperkeratosis Overgrowth Meningioma Glaucoma Hemangioma Abdominal pain Thickened skin Neoplasm of the central nervous system Constipation Neoplasm Subcutaneous nodule Abnormality of cardiovascular system morphology Heterotopia Confusion Abnormality of skin pigmentation Long penis Fever Sinusitis Palmoplantar hyperkeratosis Optic atrophy Abnormal vertebral morphology Ptosis Abnormality of the nail Ovarian neoplasm Lipoma Downslanted palpebral fissures Carious teeth Papilledema Splenomegaly Syndactyly Multiple lipomas Goiter Hamartoma Corneal erosion Abnormal eyelid morphology Follicular hyperkeratosis Absent eyelashes Oligodactyly Blepharitis Abnormal eyelash morphology Hydroureter Ectrodactyly Absent septum pellucidum Abnormality of the vertebral column Alopecia of scalp Congenital ichthyosiform erythroderma Parakeratosis Atonic seizures Uveitis Submucous cleft hard palate Heat intolerance Abnormal nasolacrimal system morphology Hypoplastic fingernail Thin fingernail Mandibular prognathia Gait ataxia Babinski sign Areflexia Cerebral atrophy Abnormality of the skeletal system Gait disturbance Dysarthria Hyperreflexia Hepatomegaly Sensorineural hearing impairment Unilateral chest hypoplasia Ichthyosis follicularis Abnormal pelvis bone morphology Scleritis Recurrent corneal erosions Hypoplasia of the bladder Cerebral cortical hemiatrophy Paronychia Episcleritis Hyperconvex fingernails Abnormality of temperature regulation Subcortical cerebral atrophy Corneal scarring Abnormality of the upper urinary tract Cheilitis Alopecia universalis Oxycephaly Alopecia totalis Olivopontocerebellar atrophy Absent eyebrow Mandibular hyperostosis Keratitis Steroid-resistant nephrotic syndrome Alopecia Hypoplasia of the corpus callosum Flexion contracture Craniosynostosis 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 Multiple lentigines Agenesis of corpus callosum Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Finger syndactyly Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Cerebellar hypoplasia Hyperhidrosis Intestinal obstruction Oligohydramnios Bifid scrotum Erythroderma Psoriasiform dermatitis Scaling skin Urticaria Plagiocephaly Conjunctivitis Multicystic kidney dysplasia Hypohidrosis Renal dysplasia Aganglionic megacolon Omphalocele Choanal atresia Abnormality of the ribs Eczema Cerebral cortical atrophy Nail dystrophy Hydronephrosis Camptodactyly Clinodactyly of the 5th finger Erythema Camptodactyly of finger Visual loss Hypotrichosis Postaxial hand polydactyly Dry skin Ichthyosis Pulmonary hypoplasia Postaxial polydactyly Ectodermal dysplasia Specific learning disability Coarse facial features Abnormality of the cerebral white matter Hepatosplenomegaly Hyperthyroidism Intracranial hemorrhage Cutis marmorata Macule Abnormality of the thyroid gland Cellulitis Acute myeloid leukemia Thyroiditis Incoordination Hodgkin lymphoma Renal cell carcinoma Hashimoto thyroiditis Scaphocephaly Prolactin excess Skin tags Megalencephaly Dysdiadochokinesis Breast carcinoma Abnormality of the uterus Intention tremor High palate Tremor Pectus excavatum Proximal muscle weakness Leukemia Nausea and vomiting Telangiectasia Hypopigmented skin patches Chronic diarrhea Exotropia Cafe-au-lait spot Gynecomastia Neoplasm of the skin Cranial nerve paralysis Drooling Furrowed tongue Astrocytoma Flattened moderately deformed vertebrae Fibroadenoma of the breast Progressive macrocephaly Pseudopapilledema Mucosal telangiectasiae Acrokeratosis Transitional cell carcinoma of the bladder Neoplasm of the thyroid gland Cutis marmorata telangiectatica congenita Endometrial carcinoma Enlarged cerebellum Trichilemmoma Dysplastic gangliocytoma of the cerebellum Conjunctival hamartoma Ductal carcinoma in situ Merkel cell skin cancer Multiple trichilemmomata Colorectal polyposis Follicular thyroid carcinoma Ovarian cyst Decreased proportion of CD4-positive T cells Intestinal polyposis Bone cyst Cavernous hemangioma Papilloma Hamartomatous polyposis Fibroma Adenoma sebaceum Varicocele Colonic diverticula Subcutaneous lipoma Abnormality of the penis Angioid streaks of the fundus Ovarian carcinoma Intestinal polyp Thyroid adenoma Spinocerebellar tract disease in lower limbs Synovial hypertrophy Pectus carinatum Low anterior hairline Progressive neurologic deterioration Tall stature Gingival overgrowth Limb ataxia Hallucinations Spastic gait Narrow palate Pancytopenia Widely spaced teeth Prominent supraorbital ridges Chronic otitis media Heart murmur Flat occiput Bowing of the legs Open bite Hypertrichosis Type II diabetes mellitus Neurodevelopmental delay Thick eyebrow Neurological speech impairment Transient ischemic attack Abnormality of the foot Genu valgum Dysmetria Retinal degeneration Highly arched eyebrow Optic disc pallor Neurodegeneration Progressive cerebellar ataxia Delayed myelination Dental malocclusion Otitis media Hip dysplasia Peripheral demyelination Bowel incontinence Femoral bowing Progressive joint destruction Increased vertebral height Long ear Retinal thinning Cerebral dysmyelination Synostosis of joints Oligosacchariduria Spondylolysis Increased hepatic glycogen content Cranial hyperostosis Generalized abnormality of skin Decreased pulmonary function Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Abnormality of dental structure Abnormality of the gingiva Vacuolated lymphocytes Abnormality of the sternum Dysostosis multiplex Thickened calvaria Limb dystonia Aseptic necrosis Severe sensorineural hearing impairment Patellar dislocation Delusions Impaired smooth pursuit Reduced ejection fraction Thoracolumbar kyphosis Abnormality of the helix Spondylolisthesis Craniofacial hyperostosis Abnormality of the rib cage Abnormal cornea morphology Synovitis Abnormal echocardiogram Thoracic kyphosis Coarse hair Dolichocephaly Cardiomegaly Arterial thrombosis Coma Anisocytosis Syncope Esotropia Tetralogy of Fallot Pulmonary arterial hypertension Abnormal cardiac septum morphology Abnormality of the face Hemihypertrophy Bradycardia Cardiac arrest Hypocalcemia Ventricular tachycardia Toe syndactyly Buphthalmos Ventricular arrhythmia Patent ductus arteriosus Vascular skin abnormality Dysphagia Ventricular septal defect Asymmetry of the thorax Asymmetric growth Encephalopathy Arrhythmia Hypertrophic cardiomyopathy Abnormal heart morphology Thick nasal alae Visceral angiomatosis Thin bony cortex Myofibrillar myopathy Hypoglycemia Cutaneous syndactyly Optic nerve hypoplasia Freckles in sun-exposed areas Abnormality of the wrist T-wave alternans Atrioventricular dissociation Abnormal direction of ventricular apex Varicose veins Deep venous thrombosis Macroorchidism Abnormality of finger Frontal balding Spinal cord compression Capillary hemangioma Edema Exostoses Neoplasm of the lung Abnormal lung lobation Abnormality of dental color Biventricular hypertrophy Atrioventricular block Abnormality of the neck Patent foramen ovale Obsessive-compulsive behavior Ventricular fibrillation 2-3 toe syndactyly Multiple joint contractures Prolonged QT interval Lower limb asymmetry Cutaneous syndactyly of toes Cutaneous finger syndactyly Protruding tongue Amelogenesis imperfecta Hypothermia Perimembranous ventricular septal defect Torsade de pointes Thrombophlebitis Menometrorrhagia Irregular hyperpigmentation Myopathic facies Macrodactyly Hypsarrhythmia Short palpebral fissure Portal vein thrombosis Oligodontia Eosinophilia Delayed ability to walk Asthma Calvarial hyperostosis Visual impairment Fatigue Metatarsus valgus Blindness Epidermal nevus Prominent nose Hypodontia Dyspnea Bronchogenic cyst Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Long philtrum Unsteady gait Retinal hamartoma Thymus hyperplasia Nevus sebaceous Facial hyperostosis Narrow internal auditory canal Sirenomelia Weight loss Lymphangioma Partial albinism Abnormality of visual evoked potentials Colitis Freckling Hypopigmentation of hair Iris hypopigmentation Severe vision loss Gingival bleeding Ocular albinism Restrictive ventilatory defect Hematochezia Abnormality of the optic nerve Ulcerative colitis Abnormal thrombocyte morphology Impaired platelet aggregation Squamous cell carcinoma of the skin Prolonged bleeding time Basal cell carcinoma Testicular neoplasm Epistaxis Upper limb asymmetry Bruising susceptibility Keloids Hypopigmentation of the skin Abnormal bleeding Gastrointestinal hemorrhage Nephrogenic diabetes insipidus Pulmonary fibrosis Long eyelashes Anorexia Epibulbar dermoid Venous malformation Acanthosis nigricans Inflammation of the large intestine Albinism Clinodactyly Osteoporosis Glomerulopathy Missing ribs Long nose Syringomyelia Severe combined immunodeficiency Arnold-Chiari type I malformation Severe intrauterine growth retardation Multiple renal cysts Anophthalmia Optic nerve coloboma Pulmonary artery atresia Chorioretinitis Widely-spaced maxillary central incisors Absent nasal bridge Anemia Open mouth Language impairment Thrombocytopenia Tapered finger Wide mouth Blepharophimosis Coloboma Lymphedema Abnormality of retinal pigmentation Small hand Underdeveloped nasal alae Bilateral ptosis Renal agenesis Congenital diaphragmatic hernia Short toe Pointed chin Aortic regurgitation Pyloric stenosis Vomiting Proteinuria Deeply set eye Glomerulonephritis Reduced bone mineral density Hypertrophy of skin of soles Chronic kidney disease Encephalitis Glomerulosclerosis Epiphyseal dysplasia Nephritis Hyperlipidemia Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis Emphysema High pitched voice Hypermelanotic macule Steatorrhea Azoospermia Atherosclerosis Autoimmunity Premature birth Stroke Long face Stage 5 chronic kidney disease Bulbous nose Nephropathy Migraine Facial asymmetry Bone marrow hypocellularity Decreased testicular size Nephrotic syndrome Lumbar hyperlordosis Intellectual disability, profound Fine hair Abnormality of epiphysis morphology Abnormality of the pinna EEG abnormality Respiratory failure Hyperostosis Diabetes insipidus Rhizomelia Horseshoe kidney Coxa valga Joint dislocation Coxa vara Sandal gap Osteoarthritis Disproportionate short-limb short stature Genu varum Short metatarsal Chorioretinal coloboma Metaphyseal widening Short femoral neck Decreased muscle mass Hallux valgus Congenital glaucoma Postnatal growth retardation High forehead Spinal canal stenosis Pes planus Pulmonary embolism Joint laxity Generalized hyperpigmentation Narrow chest Wide intermamillary distance Micromelia Neurofibromas Short distal phalanx of finger Short metacarpal Pericardial effusion Disproportionate tall stature Thoracic hypoplasia Lipodystrophy Micropenis Splayed fingers Supernumerary metacarpal bones Multiple carpal ossification centers Proximal fibular overgrowth Broad first metatarsal Radioulnar dislocation Medial deviation of the foot Growth abnormality Partial duplication of the distal phalanx of the hallux Reduced number of teeth Respiratory insufficiency Abnormality of the metacarpal bones Venous thrombosis Generalized hirsutism Posteriorly rotated ears Phalangeal dislocation Advanced tarsal ossification Cachexia Broad femoral neck Irregular vertebral endplates Flat acetabular roof Generalized joint laxity Short 1st metacarpal Generalized osteoporosis Coronal cleft vertebrae Open angle glaucoma Bifid distal phalanx of the thumb Flattened epiphysis Hypoplastic vertebral bodies Vertebral clefting Long upper lip Advanced ossification of carpal bones Multiple joint dislocation Large joint dislocations Lobular carcinoma in situ


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