Hydrocephalus, and Nail dysplasia

Diseases related with Hydrocephalus and Nail dysplasia

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

Top matches:

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.

FUHRMANN SYNDROME Is also known as fuhrmann syndrome|fuhrmann-rieger-de sousa syndrome|fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome

Related symptoms:

  • Short stature
  • Flexion contracture
  • Abnormality of the skeletal system
  • Talipes equinovarus
  • Hydrocephalus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FUHRMANN SYNDROME

Low match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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

Other less relevant matches:

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.

LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM Is also known as lenz-majewski syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL 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

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

Top 5 symptoms//phenotypes associated to Hydrocephalus and Nail dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormality of the skeletal system Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases

Macrocephaly

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia

Common Symptoms - More than 50% cases

Inguinal hernia

Uncommon Symptoms - Between 30% and 50% cases

Hernia Hypertelorism Wide mouth Muscular hypotonia Delayed eruption of teeth Proptosis Abnormality of the dentition Frontal bossing Strabismus Seizures Generalized hypotonia Cryptorchidism Growth delay Syndactyly Finger syndactyly Dental malocclusion Toe syndactyly Short distal phalanx of finger Hypodontia Macroglossia Sparse hair Narrow palate Thick vermilion border Delayed skeletal maturation Abnormal heart morphology Abnormality of cardiovascular system morphology Pectus excavatum Microcephaly Depressed nasal bridge Ventricular septal defect Epicanthus Wide nose Downslanted palpebral fissures Cleft palate Anteverted nares High palate Short neck Talipes equinovarus Short palm Cleft lip Abnormality of dental morphology Intellectual disability, mild Cardiomyopathy Hearing impairment Abnormal facial shape Optic atrophy Coarse facial features Hyperextensibility of the finger joints Failure to thrive Cerebral cortical atrophy Hydronephrosis Anteriorly placed anus Umbilical hernia Redundant skin Agenesis of corpus callosum Relative macrocephaly Cutis laxa Abnormality of dental enamel Overgrowth Hypogonadism Mandibular prognathia High, narrow palate Joint hyperflexibility Low-set ears Joint laxity Short toe Hypoplasia of dental enamel Short nose Patent ductus arteriosus Pulmonic stenosis Kyphosis Neoplasm Congenital hip dislocation Hoarse voice Hepatomegaly Oligodactyly Ascites Atrial septal defect Ventriculomegaly Intrauterine growth retardation Hypertension Cataract Polydactyly Clinodactyly Prominent forehead Cleft upper lip Cutis marmorata Supernumerary nipple Small nail Kyphoscoliosis Abnormality of the skin Hypoplastic fingernail Abnormality of digit Aplasia/Hypoplasia of the skin Postaxial hand polydactyly Wide anterior fontanel

Rare Symptoms - Less than 30% cases

Hypertonia Hematuria Telangiectasia Hypoplasia of the corpus callosum Central hypotonia Lymphedema Abnormal pulmonary valve morphology Microphthalmia Osteopenia Aplasia cutis congenita Alopecia Sensorineural hearing impairment Split hand Abnormal cardiac septum morphology Severe short stature Absent fingernail Abnormality of the metacarpal bones Premature birth Gastrointestinal hemorrhage Hypospadias Chylothorax Congenital diaphragmatic hernia Macrotia Blindness Hypoglycemia Polyhydramnios Pointed chin Soft skin Abnormal mitral valve morphology Arrhythmia Nystagmus Diastasis recti Duodenal atresia Ptosis Omphalocele Dysphagia Verrucae Obesity Broad palm Hyperhidrosis Abdominal pain Gastroesophageal reflux Papilloma Camptodactyly of finger Cough Ureteral duplication Hypoplasia of teeth Facial asymmetry Abnormality of skin pigmentation Labial hypoplasia Broad nasal tip Intestinal malrotation Low-set, posteriorly rotated ears Irritability Vertebral fusion Neuroblastoma Arnold-Chiari malformation Multicystic kidney dysplasia Intellectual disability, moderate Bifid uvula Hip dysplasia Thin skin Respiratory failure Dermal atrophy Reduced subcutaneous adipose tissue Thickened calvaria Progeroid facial appearance Hyperconvex fingernails Renal neoplasm Intellectual disability, severe Emphysema Feeding difficulties in infancy Pectus carinatum Neurological speech impairment Large for gestational age Joint hypermobility Nephroblastoma Tetraplegia Short metacarpal Cerebellar vermis hypoplasia Thick lower lip vermilion Decreased body weight Abnormality of the hair Webbed neck Chordee Macule Short finger Hyperlordosis Broad thumb Pneumothorax Abnormal vertebral morphology Delayed eruption of permanent teeth Postural instability Abnormality of epiphysis morphology Ulnar deviation of finger Apnea Pain Skeletal dysplasia Hypoplastic pelvis Hemangioma Communicating hydrocephalus Foot oligodactyly Short chin Hand oligodactyly Splenomegaly Growth hormone deficiency Hypoplasia of the maxilla Increased bone mineral density Abnormality of the nail Malar flattening Hypoplastic nipples Midface retrusion Postaxial polydactyly Wide nasal bridge Broad toe Aplasia of the middle phalanx of the hand Long philtrum Triangular mouth Clitoral hypoplasia Dilatation Posteriorly rotated ears Sleep apnea Upslanted palpebral fissure Osteoporosis Abnormality of the fingernails Carious teeth Scarring Osteopetrosis Long eyelashes Limb undergrowth Absent toenail Short foot Renal cyst Barrel-shaped chest Retinal detachment Recurrent respiratory infections Thin vermilion border Congenital cataract Dyspnea Hypoplasia of penis Lymphadenopathy Chest pain Myocardial infarction Hypothyroidism Clinodactyly of the 5th finger Dandy-Walker malformation Fatigue Abnormality of the ribs Preauricular pit Tendon rupture Enlarged kidney Alveolar rhabdomyosarcoma Abnormal lung lobation Lymphangiectasis Transposition of the great arteries Congenital neuroblastoma Vertebral segmentation defect Thickened Achilles tendon Prolonged QT interval Bundle branch block Hydroureter Bilateral talipes equinovarus Systolic heart murmur Cupped ear Clumsiness Increased corneal curvature Abnormality of the voice Abnormality of the hand Accelerated skeletal maturation Fever Narrow palpebral fissure Midclavicular hypoplasia Cardiac arrest Preauricular skin tag Cerebral visual impairment Tall stature Respiratory distress Renal dysplasia Abnormality of the genital system Midclavicular aplasia Nonproductive cough Giant cell tumor of bone Cystic lung disease Anomalous pulmonary venous return Cholangitis Abnormality of the lymphatic system Abnormal urinary color Shagreen patch Abnormality of the larynx Bronchiolitis obliterans Renal angiomyolipoma Ulcerative colitis Lower limb asymmetry Acute hepatic failure Retinal hamartoma Ungual fibroma Truncus arteriosus Myelomeningocele Bifid nose Stenosis of the external auditory canal Aplasia/Hypoplasia of the lungs Hiatus hernia Pulmonary lymphangiomyomatosis Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Ectrodactyly Facial cleft Telangiectasia of the skin Narrow nasal bridge Colitis Skin nodule Abnormal cornea morphology Apocrine hidrocystoma Patchy alopecia Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Low hanging columella Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Upper limb asymmetry Bronchiolitis Reticular hyperpigmentation Abnormal lung morphology Melanoma Restrictive ventilatory defect Hemoptysis Pulmonary infiltrates Abnormality of the middle ear Rough bone trabeculation Multiple renal cysts Inspiratory stridor Atelectasis Total anomalous pulmonary venous return Abnormality of hair texture Abnormality of female internal genitalia Broad foot Cervical ribs Polysplenia Failure to thrive in infancy Infantile muscular hypotonia Laryngomalacia Poor suck Hyperextensible skin Mixed hearing impairment Large face Bronchomalacia Abnormal dermatoglyphics Aortic aneurysm Pleural effusion Fetal distress Limited elbow movement Heart murmur Abnormality of earlobe Thin nail Acanthosis nigricans Bilateral cryptorchidism Mitral valve prolapse Sleep disturbance Sepsis Full cheeks Nevus Eczema Melena Hematemesis Cafe-au-lait spot Apraxia Epidermal acanthosis Deep plantar creases Atrial fibrillation Hyperpigmentation of the skin Hydrops fetalis Hyperglycemia Hypoplastic toenails Tachycardia Megalencephaly Thickened nuchal skin fold Broad philtrum Fragile nails Asymmetric septal hypertrophy Deep palmar crease Redundant neck skin Abnormality of the testis Fasting hypoglycemia Lack of skin elasticity Central apnea Large forehead Achilles tendon contracture Thick upper lip vermilion Large earlobe Microscopic hematuria Severe postnatal growth retardation Tricuspid regurgitation Tracheomalacia Rocker bottom foot Neurodevelopmental delay Keratoconus Curly hair Rhabdomyolysis Generalized hyperpigmentation Schwannoma Obstructive sleep apnea Broad femoral neck Rhabdomyosarcoma Syringomyelia Arnold-Chiari type I malformation Neonatal hypoglycemia Concave nail Capillary malformation Bladder neoplasm Vitreomacular adhesion Duplication of renal pelvis Broad secondary alveolar ridge Enlarged cerebellum Nephroblastomatosis Birth length greater than 97th percentile Macrocephaly at birth Penoscrotal transposition Six lumbar vertebrae 2-3 finger syndactyly Submucous cleft lip Cleft lower lip Cyst of the ductus choledochus Loose anagen hair Two carpal ossification centers present at birth Feeding difficulties Narrow sacroiliac notch Posterior helix pit Motor delay Pancreatic islet-cell hyperplasia Furrowed tongue Abnormality of the helix Flared iliac wings Aplasia/Hypoplasia of the abdominal wall musculature Ankyloglossia Increased IgE level Woolly hair Short sacroiliac notch Meckel diverticulum Hepatoblastoma Myofiber disarray Embryonal neoplasm Penoscrotal hypospadias Short 2nd finger Delayed speech and language development Cardiomyocyte hypertrophy Duodenal ulcer Concentric hypertrophic cardiomyopathy Hypertrophic cardiomyopathy Postnatal growth retardation Arthrogryposis multiplex congenita Ganglioneuroblastoma Hypermetropia Transitional cell carcinoma of the bladder Hypopnea Abnormality of the nervous system Shyness Delayed puberty Astigmatism Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Frontal hirsutism Carcinoma Dysarthria Cerebral atrophy Myopia Bladder carcinoma Respiratory insufficiency Edema Myopathy Renal insufficiency Absent speech Hyperkeratosis Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Pes cavus Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Pyloric stenosis Abnormality of retinal pigmentation Hypermelanotic macule EEG abnormality Aortic valve stenosis Pachygyria Encephalocele Hemiparesis Pulmonary arterial hypertension Coarctation of aorta Tetralogy of Fallot Esotropia Polymicrogyria Cirrhosis Talipes Leukemia Prominent nasal bridge Abnormality of the kidney Cerebellar hypoplasia Leukopenia Elevated circulating follicle stimulating hormone level Shawl scrotum Nevus flammeus Capillary hemangioma Hypoplastic labia majora Misalignment of teeth Bifid tongue Short middle phalanx of the 5th finger Thrombocytopenia Renal duplication Duplication of the distal phalanx of hand Short hard palate Bifid distal phalanx of toe Right ventricular outlet obstruction Absent penis Meningitis Bicuspid aortic valve Long palpebral fissure Aplasia cutis congenita on trunk or limbs Absent toe Cutis marmorata telangiectatica congenita Periventricular cysts Imperforate hymen Acrania Aplasia cutis congenita over posterior parietal area Facial palsy Absent hand Broad forehead Limitation of joint mobility Specific learning disability Choanal atresia Abnormality of the metaphysis Large fontanelles Venous malformation Aplastic/hypoplastic toenail Portal hypertension Arteriovenous malformation Hypoplastic left heart Cortical dysplasia Cutaneous finger syndactyly Pulmonary artery stenosis Double outlet right ventricle Calvarial skull defect Abnormality of the lower limb Aplasia cutis congenita of scalp Pulmonary artery atresia Abnormality of the upper limb Esophageal varix Congenital hepatic fibrosis Porencephalic cyst Periventricular leukomalacia Increased number of teeth Mesomelia Knee flexion contracture Prominent nose Brachycephaly High forehead Hepatosplenomegaly Craniosynostosis Narrow chest Recurrent fractures Blue sclerae Aplasia/Hypoplasia of the 5th finger Abnormality of the face Bone pain Wormian bones Osteolysis Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Anemia Coalescence of tarsal bones Abnormality of the thorax Patellar aplasia Amenorrhea Bowing of the long bones Hypoplasia of the radius Femoral bowing Radial bowing Hypoplastic iliac wing Fibular aplasia Aplasia/Hypoplasia of metatarsal bones Aplasia/Hypoplasia of the ulna Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia involving the metacarpal bones Aplasia/hypoplasia of the femur Aplasia/Hypoplasia of the phalanges of the hand Abnormal finger flexion creases Back pain Osteomyelitis Radial deviation of finger Vesicoureteral reflux Retrognathia Thin upper lip vermilion Oral cleft Flat face Downturned corners of mouth Small hand Recurrent urinary tract infections Abnormal pelvis bone ossification Dental crowding Rhizomelia Gingival overgrowth Hypergonadotropic hypogonadism Hemivertebrae Cone-shaped epiphysis Micropenis Persistent open anterior fontanelle Prominent occiput Small face Agenesis of permanent teeth Abnormality of the vertebral column Abnormality of the clavicle Osteolytic defects of the phalanges of the hand Spondylolisthesis Ridged nail Low back pain Osteolytic defects of the distal phalanges of the hand Abnormal pattern of respiration Persistence of primary teeth Delayed eruption of primary teeth Absent frontal sinuses Snoring Spondylolysis Elbow flexion contracture Cutaneous syndactyly Open bite Retinoschisis Narrow iliac wings Broad finger Abnormal tricuspid valve morphology Cataplexy Stooped posture Pseudoepiphyses of the metacarpals Lumbar kyphosis Abnormal diaphysis morphology Uterine prolapse Bifid sternum Thick nasal septum Abnormality of the nasal alae Drumstick terminal phalanges Weight loss Thick nasal alae Premature loss of primary teeth Camptodactyly Severe sensorineural hearing impairment Abnormality of neuronal migration Loss of consciousness Broad hallux Progressive spasticity Atonic seizures Spinal canal stenosis Acrocyanosis Rectal prolapse Restrictive cardiomyopathy Craniofacial hyperostosis Delayed closure of the anterior fontanelle Abnormal aortic valve morphology Myelopathy Advanced eruption of teeth Reduced visual acuity Abnormality of the pinna Aplasia/Hypoplasia of the cerebellum Brittle hair Spina bifida occulta Renal hypoplasia/aplasia Oligodontia Recurrent skin infections Reduced number of teeth Short metatarsal Hand polydactyly Increased body weight Ectopia lentis Ectropion Chorioretinal coloboma Stridor Anophthalmia Mild short stature Horseshoe kidney Short ribs Erythema Hypotrichosis Coloboma Microtia Corneal opacity Papule Nail dystrophy Pruritus Abnormality of the foot Spina bifida Iris coloboma Ectodermal dysplasia Interphalangeal joint contracture of finger Renal hypoplasia Subcutaneous nodule Short phalanx of finger Large hands Self-injurious behavior Increased intracranial pressure Lacrimal duct stenosis Femoral hernia Nasolacrimal duct obstruction Diaphyseal thickening Aplastic clavicle Epispadias Humeroradial synostosis Abnormal nasolacrimal system morphology Symphalangism affecting the phalanges of the hand Sclerosis of skull base Cranial hyperostosis Aplasia/Hypoplasia of the middle phalanges of the hand Elbow ankylosis Abnormality of the penis Absent axillary hair Generalized osteosclerosis Abnormal cortical bone morphology Broad clavicles Absent septum pellucidum Hyperostosis Short middle phalanx of finger Flared metaphysis Delayed cranial suture closure External genital hypoplasia Limited elbow extension Prematurely aged appearance Prominent superficial veins Submucous cleft hard palate Microglossia Abnormality of finger Choanal stenosis Premature skin wrinkling Broad ribs Calvarial hyperostosis Proximal symphalangism Prominent supraorbital ridges Abnormal form of the vertebral bodies Everted lower lip vermilion Highly arched eyebrow Tapered finger Single transverse palmar crease Psychosis Open mouth Mitral regurgitation Dilated cardiomyopathy Flexion contracture Coxa valga Widely spaced teeth Aplasia/Hypoplasia of the corpus callosum Schizophrenia Coarse hair Thick eyebrow Severe global developmental delay Proximal symphalangism of hands Muscle weakness Prominent scalp veins Facial hyperostosis Exodeviation Lumbar kyphoscoliosis Progressive sclerosis of skull base Stiff finger Peripheral neuropathy Protruding ear Skeletal muscle atrophy Gait disturbance Congestive heart failure Pes planus Telecanthus Mental deterioration Chylopericardium


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