Hydrocephalus, and Scarring

Diseases related with Hydrocephalus and Scarring

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

Top matches:

Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD; see this term), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.

FOCAL FACIAL DERMAL DYSPLASIA TYPE IV Is also known as ffdd type iv|focal facial dermal dysplasia 4|focal facial preauricular dysplasia|ffdd4

Related symptoms:

  • Microcephaly
  • Cleft palate
  • Hydrocephalus
  • Cleft lip
  • Sparse hair


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA TYPE IV

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Other less relevant matches:

The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Scarring

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hydrocephalus and Scarring. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Microcephaly Neoplasm Skeletal dysplasia Scoliosis Frontal bossing Malar flattening Seizures Flexion contracture Sparse hair Carious teeth Short chin Hypertension Dilatation Joint hyperflexibility Failure to thrive Spasticity Ventriculomegaly Cerebral atrophy Sensorineural hearing impairment Hypertelorism Severe short stature Abnormality of the skeletal system Abnormality of skin pigmentation Dental malocclusion Proptosis Pain Thin vermilion border Osteoarthritis Arrhythmia Normal pressure hydrocephalus Deeply set eye Brachydactyly Midface retrusion Inguinal hernia Micropenis Umbilical hernia Depressed nasal bridge Hernia Hemangioma Generalized hypotonia Gingival overgrowth

Rare Symptoms - Less than 30% cases

Dry hair Abnormality of visual evoked potentials Chorioretinitis Atypical scarring of skin Progeroid facial appearance Hypoplastic iliac wing Hypoplastic pelvis Downturned corners of mouth Small hand Basal ganglia calcification Cerebellar hypoplasia Wide nose Micrognathia Ptosis High palate Short palm Downslanted palpebral fissures Recurrent urinary tract infections Thickened calvaria Oral cleft Polyneuropathy Proteinuria Capillary hemangioma Abnormality of the pinna Cleft palate Dermal translucency Hypermetropia Dry skin Dermal atrophy Subvalvular aortic stenosis Rhizomelia Limitation of joint mobility Pigmentary retinopathy Cutaneous photosensitivity Opacification of the corneal stroma Decreased nerve conduction velocity Abnormal aortic morphology Anhidrosis Reduced subcutaneous adipose tissue Flat face Mitral valve prolapse Talipes equinovarus Aortic aneurysm Blue sclerae Loss of facial adipose tissue Epicanthus Joint dislocation Increased cellular sensitivity to UV light Severe photosensitivity Slender nose Peripheral dysmyelination Eczema Pulmonary artery aneurysm Square pelvis bone Ivory epiphyses of the phalanges of the hand Patchy demyelination of subcortical white matter Dilatation of the cerebral artery Narrow nose Abnormality of cardiovascular system morphology Ascending tubular aorta aneurysm Anteverted nares Short neck Abnormal eyelash morphology Retrognathia Hypoplasia of the corpus callosum Thin upper lip vermilion Hypospadias Clinodactyly Clinodactyly of the 5th finger Posteriorly rotated ears Hyperreflexia Pes planus Decreased lacrimation Hypogonadism Upslanted palpebral fissure Prominent forehead Abnormal auditory evoked potentials Aplasia cutis congenita Pectus excavatum Delayed eruption of primary teeth Bruising susceptibility Hypoplasia of teeth Communicating hydrocephalus Nevus flammeus Asthma Retinopathy Strabismus Hydronephrosis Rigidity Nystagmus Cleft lip Ataxia Alopecia Papule Microphthalmia Behavioral abnormality Atrial septal defect Sleep disturbance Conductive hearing impairment Delayed speech and language development Hypoplasia of the iris Abnormality of the skin Dandy-Walker malformation Recurrent otitis media Short toe Sleep apnea Tinnitus Periodontitis Gingivitis Premature loss of teeth Chronic otitis media Muscle weakness Otitis media Cognitive impairment Aortic valve stenosis Cataract Renal insufficiency Mandibular prognathia Kyphosis Intellectual disability, severe Hemiparesis Tremor Osteolysis Optic atrophy Splenomegaly Subcutaneous nodule Obesity Hepatomegaly Cerebral calcification Intrauterine growth retardation Nevus Abnormality of the face Spontaneous pneumothorax Molluscoid pseudotumors Myelopathy Foot acroosteolysis Hypoxemia Coronary artery aneurysm Megalencephaly Multiple epiphyseal dysplasia Hypoplastic lacrimal duct Osteoporosis Postnatal growth retardation Cor pulmonale Abnormality of femur morphology Generalized joint laxity Central apnea Abnormal peripheral myelination Dysuria Osteopetrosis Subcortical white matter calcifications Thoracolumbar kyphosis Upper airway obstruction Cerebellar calcifications Abnormal facial shape Muscular hypotonia Recurrent ear infections Severe failure to thrive Chronic myelogenous leukemia Trident hand Arteriovenous fistulas of celiac and mesenteric vessels Hemothorax Premature delivery because of cervical insufficiency or membrane fragility Abnormality of the hair Lumbar kyphosis in infancy Cystocele Microcornea Congenital cataract Uterine prolapse Myelitis Spinal stenosis with reduced interpedicular distance Uterine rupture Prominent nasal bridge Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Hypopnea Arterial rupture Obstructive lung disease Small for gestational age Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Cervical cord compression Internal hemorrhage Feeding difficulties Thin skin Narrow nasal bridge Cigarette-paper scars Macule Aplasia/Hypoplasia of the eyebrow Melanocytic nevus Rheumatoid arthritis Redundant skin Hypokalemia Abnormality of the urinary system Abnormal intestine morphology Congenital hip dislocation Cardiac arrest Telangiectasia Microdontia Abnormal heart valve morphology Migraine Premature birth Abnormal bleeding High, narrow palate Joint hypermobility Vertigo Hip dislocation Protruding ear Telecanthus Arthritis Narrow mouth Glaucoma Abnormality of the dentition Respiratory insufficiency Telangiectasia of the skin Fragile skin Retinal pigment epithelial mottling Reduced consciousness/confusion Abnormality of the gingiva Abnormal oral frenulum morphology Gastrointestinal infarctions Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Periorbital edema Pneumothorax Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Osteolytic defects of the phalanges of the hand Arterial dissection Varicose veins Hematochezia Abnormally large globe Aortic dissection Transient ischemic attack Subarachnoid hemorrhage Alopecia of scalp Sprengel anomaly Esophageal atresia Hemoptysis Prematurely aged appearance Keratoconus Scleroderma Abnormal joint morphology Thymic hormone decreased CNS demyelination Hyporeflexia Round face Bilateral single transverse palmar creases Sparse and thin eyebrow Short phalanx of finger Stereotypy Broad-based gait Sparse scalp hair Congenital diaphragmatic hernia Narrow forehead Wide intermamillary distance Underdeveloped nasal alae Colonic diverticula Gingival recession Short metacarpal Broad nasal tip Narrow palpebral fissure Short foot Highly arched eyebrow Thick vermilion border Toe syndactyly Finger syndactyly Attention deficit hyperactivity disorder Blepharophimosis Autistic behavior Feeding difficulties in infancy Aggressive behavior Coarse facial features Autism Brachycephaly Hyperactivity Multicystic kidney dysplasia Obstructive sleep apnea Menstrual irregularities Broad face Severe postnatal growth retardation Large hands Neoplasm of the skin Atherosclerosis Knee flexion contracture Leukodystrophy Anorexia Peripheral demyelination Dementia Gait disturbance Dysarthria Self-biting Pain insensitivity Broad columella Renal neoplasm Peripheral arteriovenous fistula Low hanging columella Overweight Tracheomalacia Supernumerary nipple Mild short stature Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Pyloric stenosis Short metatarsal Arteriovenous fistula Laryngomalacia Absent earlobe Renovascular hypertension Spinal cord compression Short middle phalanx of the 5th finger Abnormality of the elbow Absent septum pellucidum Hemihypertrophy Echolalia Ectopia pupillae Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Abnormality of the skull Arachnoid cyst Lipoma Hamartoma Multiple lipomas Astrocytoma Cortical dysplasia Dysphasia Aphasia Lipodystrophy Hemiplegia Mutism Sacral dimple Muscle stiffness Pulmonary arterial hypertension Intellectual disability, profound Coarctation of aorta Tetraplegia Xanthomatosis Craniofacial hyperostosis Hypotrichosis Pelvic kidney Camptodactyly Joint laxity Kyphoscoliosis Patent ductus arteriosus Myopia Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Osteochondrosis Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Hemiatrophy Peripheral pulmonary artery stenosis Subcutaneous lipoma Tricuspid valve prolapse Epibulbar dermoid Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Visceral angiomatosis Glioma Interrupted aortic arch Porencephalic cyst Bone cyst Iris coloboma Neurological speech impairment Pectus carinatum Blindness Recurrent upper respiratory tract infections Abnormality of vision Venous thrombosis Conjunctivitis Recurrent pneumonia Hoarse voice Sinusitis Nephrolithiasis Abnormality of the eye Pneumonia Visual loss Abnormality of metabolism/homeostasis Abnormality of epidermal morphology Epiphora Abnormality of buccal mucosa Abnormal mast cell morphology Fragmented elastic fibers in the dermis Abnormality of the cheek Unilateral cleft lip Skin vesicle Cupped ear Intracranial hemorrhage Cutis laxa Abnormal blistering of the skin Focal-onset seizure Cleft upper lip Nephritis Abnormality of the ear Corneal opacity Abnormality of fontanelles Coloboma Paralysis Cerebral cortical atrophy Agenesis of corpus callosum Hypertonia Ventricular septal defect Pneumomediastinum Decreased level of plasminogen Cervicitis Vaginitis Geographic tongue Chronic irritative conjunctivitis Reduced factor XII activity Recurrent bronchitis Abnormality of the mediastinum Abnormality of the fallopian tube Abnormality of the gallbladder Gastrointestinal inflammation Duodenal ulcer Abnormality of the middle ear Keratoconjunctivitis Poor wound healing Recurrent pharyngitis Abnormality of the ovary Stomatitis Abnormality of the larynx Abnormality of the respiratory system Craniosynostosis Broad forehead Spinal canal stenosis Short hard palate Hyperlordosis Apnea Abnormality of the nervous system Arthralgia Gastroesophageal reflux Weight loss Motor delay Anemia Growth delay Absent penis Right ventricular outlet obstruction Bifid distal phalanx of toe Duplication of the distal phalanx of hand Micromelia Broad toe Aplasia of the middle phalanx of the hand Renal duplication Triangular mouth Clitoral hypoplasia Elevated circulating follicle stimulating hormone level Bifid tongue Misalignment of teeth Hypoplastic labia majora Shawl scrotum Hypoplastic nipples Increased number of teeth Leukemia Confusion Mesomelia Genu varum Hip contracture Neuroblastoma Disproportionate short stature Myeloid leukemia Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Epiphyseal dysplasia Back pain Abnormality of pelvic girdle bone morphology Lymphoma Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Acanthosis nigricans Paraparesis Clonus Abnormal lung morphology Abnormality of the metaphysis Abnormal form of the vertebral bodies Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Overgrowth Long palpebral fissure Radial deviation of finger Dolichocephaly Hallux valgus Thoracic aortic aneurysm Long toe Sagittal craniosynostosis Spondylolisthesis High anterior hairline Soft skin Scaphocephaly Rhinitis Aortic root aneurysm Abnormality of the sternum Atrophic scars Disproportionate tall stature Myopathic facies Unilateral ptosis Ectopia lentis Arnold-Chiari malformation Bicuspid aortic valve Microretrognathia Finger clinodactyly Joint contracture of the hand Exotropia Mitral regurgitation Postaxial hand polydactyly Bifid uvula Arachnodactyly Facial asymmetry Arterial tortuosity Dural ectasia Cone-shaped epiphysis Hypodontia Narrow palate Hemivertebrae Hypergonadotropic hypogonadism Abnormal vertebral morphology Wide anterior fontanel Dental crowding Long eyelashes Broad thumb Limb undergrowth Nail dysplasia Vesicoureteral reflux Macroglossia Delayed eruption of teeth Long thorax Wide mouth Delayed skeletal maturation Long philtrum Short nose Wide nasal bridge Low-set ears Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Hypermobility of distal interphalangeal joints


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