Hydrocephalus, and Lymphedema

Diseases related with Hydrocephalus and Lymphedema

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

Top matches:

Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Other less relevant matches:

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Lissencephaly syndrome, Norman-Roberts type is characterised by the association of lissencephaly type I with craniofacial anomalies (severe microcephaly, a low sloping forehead, a broad and prominent nasal bridge and widely set eyes) and postnatal growth retardation.

LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE Is also known as norman-roberts syndrome|lissencephaly syndrome, norman-roberts type|microlissencephaly type a

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LISSENCEPHALY SYNDROME, NORMAN-ROBERTS TYPE

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is an autosomal dominant disorder characterized by these 4 features, which begin in early childhood and are progressive (summary by Moalem et al., 2015).

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS Is also known as glomerulonephritis with sparse hair and telangiectases|telangiectatic membranoproliferative glomerulonephritis

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Hypertension
  • Epicanthus
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Lymphedema

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Frontal bossing Depressed nasal bridge Macrocephaly Epicanthus Low-set ears Abnormal heart morphology Strabismus Micrognathia Generalized hypotonia Short stature Hearing impairment Scoliosis Optic atrophy Dilatation Alopecia Edema Proptosis Cerebral atrophy Atrial septal defect Anteverted nares Depressivity Pulmonic stenosis Hypertonia Posteriorly rotated ears Abnormality of the nervous system Deep palmar crease Hyperextensible skin Cutis laxa Webbed neck Short neck Hypermetropia Growth hormone deficiency Cataract Cryptorchidism Ptosis Motor delay Wide nasal bridge Talipes equinovarus Long philtrum Abnormality of cardiovascular system morphology Genu valgum Hypotrichosis Abnormality of the dentition Pectus carinatum Abnormality of the skeletal system Abnormal facial shape Muscular hypotonia Downslanted palpebral fissures Ventricular septal defect Hernia Inguinal hernia Delayed skeletal maturation Cerebral cortical atrophy Osteopenia Ventriculomegaly Agenesis of corpus callosum Myopia Sparse hair Thick vermilion border Delayed speech and language development Microcephaly Hyperkeratosis

Rare Symptoms - Less than 30% cases

Dysarthria Pyloric stenosis Premature birth Neurodevelopmental delay Fine hair Long eyelashes Relative macrocephaly Reduced subcutaneous adipose tissue Full cheeks Nevus Broad philtrum Postural instability Sleep disturbance High, narrow palate Hydrops fetalis Eczema Curly hair Broad nasal tip Large for gestational age Wide nose Cafe-au-lait spot Redundant skin Failure to thrive in infancy Hemangioma Pleural effusion Sparse eyelashes Narrow palate Hyperpigmentation of the skin Intellectual disability, mild Talipes Decreased body weight Heart murmur Hypogonadism Brachycephaly Telecanthus Intellectual disability, moderate Absent eyebrow Generalized hyperpigmentation Joint hypermobility Arnold-Chiari type I malformation Astigmatism Neoplasm Renal insufficiency Hypertension Hyperhidrosis Abnormality of the testis Hyperextensibility of the finger joints Ataxia Pectus excavatum Short nose Cardiomegaly Lumbar scoliosis Failure to thrive Abnormal mitral valve morphology Cardiomyopathy Dysphagia High palate Feeding difficulties Low posterior hairline Mitral valve prolapse Abnormality of the cerebral white matter Osteoporosis Hepatomegaly Absent eyelashes Congestive heart failure Irritability Feeding difficulties in infancy Low-set, posteriorly rotated ears Prominent forehead Hypertrophic cardiomyopathy Polyhydramnios Kyphoscoliosis Woolly hair Joint laxity Abnormal cardiac septum morphology Thick upper lip vermilion Coarse facial features Gastroesophageal reflux Postnatal growth retardation Cleft palate Severe postnatal growth retardation Poor suck Brachydactyly Abnormal lung morphology Recurrent fractures Restrictive ventilatory defect Mandibular prognathia Pneumothorax Thrombocytopenia Blindness Spasticity Flexion contracture Visual impairment Intrauterine growth retardation Ascites Hypoplasia of the corpus callosum Microphthalmia Cerebellar hypoplasia Hyperreflexia Cerebellar atrophy Prominent nasal bridge Wide anterior fontanel Blue sclerae Oligohydramnios Bulbous nose Myocardial infarction Short distal phalanx of finger Respiratory failure Fever Cognitive impairment Respiratory distress Abnormality of skin pigmentation Hematuria Joint dislocation Facial telangiectasia in butterfly midface distribution Bilateral ptosis Abnormality of the pulmonary artery Memory impairment Excessive wrinkled skin Abnormality of hair texture Cavernous hemangioma Multiple lentigines Sparse or absent eyelashes Abnormal aortic valve morphology Psychosis Neuronal loss in central nervous system Sparse eyebrow Endocarditis Scaling skin Abnormality of mitochondrial metabolism Epidermal hyperkeratosis Choroid plexus calcification Ectropion Melanocytic nevus Cubitus valgus Subvalvular aortic stenosis Thickened helices Slow-growing hair Increased nuchal translucency Malnutrition Frontal balding Abnormal location of ears Oral aversion Multiple plantar creases Eyelid fasciculation Deep philtrum Multiple palmar creases Progressive cerebellar ataxia Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormality of the hairline Anterior creases of earlobe Hyperkeratosis pilaris Tongue thrusting Brittle hair Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Urinary incontinence Pulmonary lymphangiectasia Abnormality of the optic disc Abnormal tricuspid valve morphology Resting tremor Gastrointestinal dysmotility Biparietal narrowing Alopecia of scalp Atopic dermatitis Membranoproliferative glomerulonephritis Poor appetite Glomerulonephritis Long nose Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Freckling Palpebral edema Multiple cafe-au-lait spots Chronic kidney disease Narrow nose Abnormal heart valve morphology Hydrocele testis Obsessive-compulsive behavior Long palpebral fissure Abnormality of the sternum Infantile spasms Nonimmune hydrops fetalis Neurofibromas Arteriosclerosis Open bite Aplasia/Hypoplasia of the eyebrow Abnormal eyelash morphology Enlarged kidney Hydroureter Respiratory insufficiency Abnormality of refraction Atrophy/Degeneration affecting the brainstem Abnormal myocardium morphology Delayed CNS myelination Head tremor Primitive reflex Abnormality of the cerebrospinal fluid Abnormality of the optic nerve Excessive daytime sleepiness Dystrophic fingernails Narcolepsy Abnormal hair pattern Pseudobulbar signs Sparse and thin eyebrow Predominantly lower limb lymphedema Short attention span Abnormality of the gastrointestinal tract Dilated third ventricle Proteinuria Abnormality of the ulna Chronic otitis media Premature skin wrinkling Oval face Stage 5 chronic kidney disease Hypoplasia of the zygomatic bone Telangiectasia Cataplexy Shyness Myopathy Verrucae Concave nail Hypoplasia of teeth Macrocephaly at birth Fasting hypoglycemia Asymmetric septal hypertrophy Labial hypoplasia Enlarged cerebellum Myofiber disarray Redundant neck skin Vitreomacular adhesion Lack of skin elasticity Tendon rupture Central apnea Alveolar rhabdomyosarcoma Large forehead Broad femoral neck Achilles tendon contracture Large earlobe Progeroid facial appearance Lymphangiectasis Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Congenital neuroblastoma Microscopic hematuria Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Rhabdomyosarcoma Schwannoma Tracheomalacia Bronchomalacia Body odor Ulnar deviation of the wrist Duodenal ulcer Abnormal pulmonary valve morphology Bladder neoplasm Capillary malformation Triangular mouth Melena Hematemesis Deep plantar creases Hypopnea Thin nail Large face Papilloma Fetal distress Loose anagen hair Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Limited elbow movement Cardiomyocyte hypertrophy Abnormality of earlobe Central hypotonia Ulnar deviation of finger Polyneuropathy Joint hyperflexibility Lissencephaly Prominent occiput Colpocephaly Cavum septum pellucidum Type I lissencephaly Sepsis Thick cerebral cortex Macroglossia Bitemporal hollowing Sensorineural hearing impairment Tetraplegia Peripheral neuropathy Tremor Tachycardia Delayed puberty Pachygyria Babinski sign Arthrogryposis multiplex congenita Wide mouth Apnea Carcinoma Hypoglycemia Dementia Severe short stature Diabetes mellitus Pes cavus Postprandial hyperglycemia Sensory neuropathy Arrhythmia Absent speech Abnormality of the skin Intellectual disability, profound Rhabdomyolysis Acanthosis nigricans Neuroblastoma Keratoconus Thickened Achilles tendon Rocker bottom foot Tricuspid regurgitation Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Aortic aneurysm Systolic heart murmur Laryngomalacia Arnold-Chiari malformation Infantile muscular hypotonia Abnormal dermatoglyphics Abnormality of the fingernails Sloping forehead Short chin Abnormality of dental enamel Pointed chin Hoarse voice Abnormality of the hair Increased corneal curvature Hypoplasia of dental enamel Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Apraxia Overgrowth Hip dysplasia Generalized-onset seizure Mental deterioration Constipation Abnormality of vision Osteomyelitis Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Cranial hyperostosis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Osteopetrosis Aseptic necrosis Rhinitis Hyperostosis Clinodactyly Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Abnormality of the metacarpal bones Cranial nerve paralysis Hypocalcemia Bone marrow hypocellularity Increased bone mineral density Bone pain Abnormality of epiphysis morphology Recurrent urinary tract infections Abnormality of the metaphysis Osteoarthritis Pancytopenia Ectodermal dysplasia Abnormality of the vertebral endplates Upslanted palpebral fissure Carious teeth Abnormality of the genital system Occipital encephalocele Partial agenesis of the corpus callosum Multiple lipomas Adrenal insufficiency Diabetes insipidus Radial deviation of finger Anophthalmia Preaxial polydactyly Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Abnormality of the face Heterotopia Encephalocele Polydactyly Coloboma Micropenis Hypothyroidism Conductive hearing impairment Cleft lip Camptodactyly Craniosynostosis Oral cleft Postaxial hand polydactyly Postaxial polydactyly Hypoplasia of the maxilla Underdeveloped nasal alae Dandy-Walker malformation Decreased testicular size Tetralogy of Fallot Neurodegeneration Paralysis Median cleft lip Atelectasis Syndactyly Chylopericardium Pulmonary lymphangiomyomatosis Cystic lung disease Ungual fibroma Retinal hamartoma Renal angiomyolipoma Bronchiolitis obliterans Shagreen patch Abnormal urinary color Abnormality of the lymphatic system Chylothorax Bronchiolitis Abnormality of female internal genitalia Renal neoplasm Muscular hypotonia of the trunk Chest pain Fatigue Recurrent respiratory infections Abdominal pain Dyspnea Cough Lymphadenopathy Gastrointestinal hemorrhage Multiple renal cysts Melanoma Nephroblastoma Emphysema Macule Hemoptysis Pulmonary infiltrates Deeply set eye Protruding ear Facial palsy Aplasia cutis congenita of scalp Arthritis Hepatosplenomegaly Pneumonia Visual loss Recurrent infections Immunodeficiency Anemia Muscle weakness Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita High-pitched cry Retrocerebellar cyst Retinal fold Periventricular leukomalacia Congenital cataract Small nail Polymicrogyria Retinal detachment Short foot Single transverse palmar crease Gliosis Wide intermamillary distance Low anterior hairline Corpus callosum atrophy Narrow palpebral fissure Cerebral palsy Dermal atrophy Cutis marmorata Short finger Aplasia cutis congenita Facial cleft Lipoma Palmoplantar hyperkeratosis Pain Neurological speech impairment Leukemia Scarring Erythema Respiratory tract infection Abnormality of the kidney Abnormality of the eye Aggressive behavior Hydronephrosis EEG abnormality Umbilical hernia Macrotia High forehead Autism Clinodactyly of the 5th finger Nail dystrophy Metacarpophalangeal joint hyperextensibility Hypertropia Accessory carpal bones Enlarged metaphyses Prominent antitragus Spatulate thumbs Broad distal phalanges of all fingers Bilateral elbow dislocations Encephalopathy Intellectual disability, severe Vomiting Behavioral abnormality Splenomegaly Kyphosis Malar flattening Pruritus Dolichocephaly Multiple joint dislocation Coarctation of aorta Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Aplasia/Hypoplasia of the corpus callosum Abnormal palate morphology Oculomotor apraxia Abnormality of the nail Aspiration Cerebral visual impairment Thickened skin Open mouth Inflammatory abnormality of the skin Hemiparesis Narrow forehead Dry skin Hepatic steatosis Ichthyosis Peripheral axonal neuropathy Long face Falls Bruising susceptibility Retinal dystrophy Palmoplantar keratoderma Abnormality of the cardiovascular system Abdominal distention Abnormal bleeding Vesicoureteral reflux Intestinal malrotation Dental malocclusion Progressive visual loss Shoulder dislocation Talipes equinovalgus Meningocele Scleral staphyloma Narrow chest Hip dislocation Microtia Pes planus Narrow mouth Glaucoma Midface retrusion Anterior basal encephalocele Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Widely-spaced maxillary central incisors Arachnodactyly Bifid nasal tip Coronal craniosynostosis Short columella Calvarial skull defect Widow's peak Preaxial foot polydactyly Conical tooth Alopecia totalis Hypoplastic frontal sinuses Agenesis of cerebellar vermis Bifid nose Broad columella Parietal foramina Median cleft palate Absent tibia Abnormality of the foot Flat face Knee dislocation Spondyloepiphyseal dysplasia Abnormality of the abdominal wall Endocardial fibroelastosis Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Aortic root aneurysm Narrow nasal bridge Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Radioulnar synostosis Thick eyebrow Amblyopia Short metacarpal Esotropia Microdontia Congenital diaphragmatic hernia Mitral regurgitation Left ventricular hypertrophy Rhizomelia Patent foramen ovale Meningitis Elbow flexion contracture Microretrognathia Accelerated skeletal maturation Sandal gap Bicuspid aortic valve Telangiectasia of extensor surfaces


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