Ptosis, and Nail dysplasia

Diseases related with Ptosis and Nail dysplasia

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


Top matches:

Low match BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION


Related symptoms:

  • Scoliosis
  • Ptosis
  • Epicanthus
  • Macrotia
  • Umbilical hernia


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO NSD1 MUTATION

Low match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Low match SCLEROSTEOSIS


Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.

SCLEROSTEOSIS Is also known as cortical hyperostosis-syndactyly syndrome|sost|cortical hyperostosis with syndactyly

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SCLEROSTEOSIS

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Other less relevant matches:

Low match REFSUM DISEASE


Refsum disease (RD) is a very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.

REFSUM DISEASE Is also known as hmsn 4|phytanic-coa hydroxylase deficiency|heredopathia atactica polyneuritiformis|classic refsum disease|hereditary motor and sensory neuropathy type 4|adult refsum disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscular hypotonia
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about REFSUM DISEASE

Low match EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY


Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering associated with muscular dystrophy.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY Is also known as epidermolysis bullosa simplex and limb-girdle muscular dystrophy|md-ebs|ebs-md|mdebs|limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Ptosis
  • Anemia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY

Low match RAPP-HODGKIN SYNDROME; RHS


RAPP-HODGKIN SYNDROME; RHS Is also known as ectodermal dysplasia, anhidrotic, with cleft lip/palate

Related symptoms:

  • Short stature
  • Hearing impairment
  • Micrognathia
  • Cleft palate
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about RAPP-HODGKIN SYNDROME; RHS

Low match TMEM165-CDG


TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12).

TMEM165-CDG Is also known as congenital disorder of glycosylation type 2k|cdg iik|cdg2k|congenital disorder of glycosylation type iik|cdg-iik|cdgiik|cdg syndrome type iik|carbohydrate deficient glycoprotein syndrome type iik

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about TMEM165-CDG

Low match AUTOSOMAL DOMINANT ROBINOW SYNDROME


Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Low match 2Q32Q33 MICRODELETION SYNDROME


2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Strabismus Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Wide nasal bridge Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly of the 5th finger Midface retrusion Scoliosis Downslanted palpebral fissures Finger syndactyly Depressed nasal bridge Micrognathia Frontal bossing Malar flattening Alopecia Osteoporosis Macrocephaly Posteriorly rotated ears Seizures Global developmental delay Growth delay Long philtrum Hypertelorism Low-set ears Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Talipes equinovarus Hyperconvex fingernails Abnormality of dental enamel Talipes Dermal atrophy Elevated serum creatine phosphokinase Hypotrichosis Nail dystrophy Abnormality of the foot Skeletal dysplasia Renal insufficiency Intellectual disability, severe Cardiomyopathy Cataract Muscular hypotonia Hypospadias Ectodermal dysplasia Narrow mouth Short palm Abnormality of the cerebral white matter Joint laxity Intellectual disability Severe short stature Brachydactyly Anteverted nares High palate Abnormal facial shape Microcephaly Generalized hypotonia Pectus excavatum Inguinal hernia Short philtrum Wide nose High forehead Downturned corners of mouth Conical tooth Hypoplastic labia majora Narrow nose Long eyelashes Oligodontia Renal dysplasia Thin skin Fine hair Anosmia Hypodontia Cleft upper lip Sparse hair Cleft lip Fingernail dysplasia Muscle weakness Sacral dimple Overgrowth Paresthesia Syndactyly Proptosis Edema Ventricular septal defect Deep-set nails Facial palsy Dental malocclusion Pulmonary hypoplasia Nystagmus Hyperactivity Umbilical hernia Epicanthus Curly eyelashes Open bite Elbow dislocation Bilateral talipes equinovarus Coxa vara Abnormality of the gingiva Hypoplastic labia minora Coxa valga Overlapping toe Ridged fingernail Hemivertebrae Gingival overgrowth Myopathic facies Abnormal form of the vertebral bodies Convex nasal ridge Blue sclerae Long nose Long palpebral fissure Decreased testicular size Abnormality of dental morphology Avascular necrosis of the capital femoral epiphysis Broad thumb Median cleft lip and palate Dental crowding Broad-based gait Microretrognathia Epispadias Femoral hernia Hemiparesis Clitoral hypoplasia Drooling Bifid tongue Tented upper lip vermilion Short palpebral fissure Capillary hemangioma Relative macrocephaly Increased number of teeth Intellectual disability, profound Anodontia High, narrow palate Hypoplasia of penis Unexplained fevers Happy demeanor Toe clinodactyly Median cleft palate Large beaked nose Cryptorchidism Dacryocystitis Incomprehensible speech Narrow maxilla Diaphyseal dysplasia Pes valgus Conspicuously happy disposition Anterior pituitary hypoplasia Toenail dysplasia Beaking of vertebral bodies Premature skin wrinkling Broad neck Amelogenesis imperfecta Protruding tongue Short neck Overbite Specific learning disability Camptodactyly of finger Hip dysplasia Euryblepharon Abnormality of digit Restlessness Abnormality of the periventricular white matter Micromelia Hip dislocation Pectus carinatum Retrognathia Excessive salivation Upslanted palpebral fissure Prominent forehead Self-mutilation Short columella Broad hallux phalanx Cleft soft palate Generalized osteoporosis Short nose Abnormality of the penis Prominent nasal bridge Naevus flammeus of the eyelid Thickening of the lateral border of the scapula Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Smooth philtrum Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Arachnodactyly Poor speech Hypoplastic radial head Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Joint hyperflexibility Biceps aplasia Microalbuminuria Facial asymmetry Attention deficit hyperactivity disorder Postnatal growth retardation Camptodactyly Aggressive behavior Anxiety Thin upper lip vermilion Osteopenia Autism Brachycephaly Spasticity Hyperhidrosis Hernia Absent speech Behavioral abnormality Abnormality of the dentition Hyperreflexia Delayed speech and language development Feeding difficulties Flexion contracture Cervical ribs Aplasia/Hypoplasia of the patella Onychogryposis of fingernail Confusion Recurrent urinary tract infections Lumbar hyperlordosis Nephrotic syndrome Microcornea Sleep disturbance Nephropathy Hematuria Oral cleft Prominent nose Aortic regurgitation Arthrogryposis multiplex congenita Abnormality of the kidney Proteinuria Pes planus Glaucoma Febrile seizures Hypertension Broad forehead Neoplasm Spina bifida Abnormality of the urinary system Patellar hypoplasia Thin vermilion border Concave nail Ridged nail Patellar aplasia Tubulointerstitial nephritis Long face Metaphyseal dysplasia Raynaud phenomenon Blue irides Abnormality of the elbow Patellar dislocation Pterygium Renal cell carcinoma Keratoconus Colon cancer Limited elbow extension Bulbous nose Thick eyebrow Anonychia Nephritis Glomerulonephritis Pain Velopharyngeal insufficiency Epiphyseal dysplasia Diaphyseal thickening Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Sclerotic vertebral endplates Broad clavicles Esodeviation Deviation of finger Craniofacial hyperostosis Cortically dense long tubular bones Abnormality of the nose Abnormal cortical bone morphology Broad ribs Abnormal cranial nerve morphology Hyperostosis Constriction of peripheral visual field Abnormality of pelvic girdle bone morphology Increased intracranial pressure Cutaneous syndactyly Facial palsy secondary to cranial hyperostosis Ataxia Tall stature Nyctalopia Abnormality of vision Abnormality of retinal pigmentation Abnormality of epiphysis morphology Progressive visual loss Short metacarpal Ichthyosis Dry skin Abnormality of eye movement Abnormal pyramidal sign Retinopathy Visual impairment Developmental regression Abnormality of the eye Pes cavus Abnormality of metabolism/homeostasis Microphthalmia Splenomegaly Respiratory insufficiency Skeletal muscle atrophy Peripheral neuropathy Increased bone mineral density Esotropia Hemiplegia/hemiparesis Hemihypertrophy Ascites Pulmonic stenosis Photophobia Arrhythmia Abnormality of the palpebral fissures Abnormality of the hairline Abdominal wall muscle weakness Moderate global developmental delay Deep palmar crease Hyperinsulinemic hypoglycemia Lymphedema Fragile nails Multiple renal cysts Neonatal hypoglycemia Large for gestational age Plagiocephaly Vesicoureteral reflux Dolichocephaly Craniosynostosis Macrotia Tetralogy of Fallot Hydrops fetalis Paralysis Abnormality of the amniotic fluid Mandibular prognathia Visual loss Headache Optic atrophy Cognitive impairment Hyperkeratosis over edematous areas Hypoplasia of lymphatic vessels Predominantly lower limb lymphedema Chylous ascites Distichiasis Abnormality of the nail Hypoproteinemia Nonimmune hydrops fetalis Varicose veins Hydrocele testis Edema of the lower limbs Cellulitis Pleural effusion Hemangioma Conjunctivitis Hammertoe Heart block Shock Ectrodactyly Anhidrotic ectodermal dysplasia Cystic renal dysplasia Dry hair Thick nail Dystrophic fingernails Pili torti Dystrophic toenail Generalized hyperpigmentation Submucous cleft hard palate Non-midline cleft lip Ankyloblepharon Supernumerary nipple Abnormality of the voice Coarse hair Widely spaced teeth Sparse eyelashes Sparse and thin eyebrow Hypohidrosis Recurrent otitis media Small nail Hypohidrotic ectodermal dysplasia Hyperconvex nail Bifid uvula Thrombocytopenia Hoarse voice Rhizomelia Postnatal microcephaly Depressed nasal ridge Waddling gait Growth hormone deficiency Elevated hepatic transaminase Hepatosplenomegaly Kyphoscoliosis Abnormality of the skeletal system Trichodysplasia Fever Hepatomegaly Failure to thrive Decreased number of sweat glands Progressive alopecia Small, conical teeth Submucous cleft soft palate Pili canaliculi Absent lacrimal punctum Underdeveloped nasal alae Hypoplasia of the maxilla Miosis Tachycardia Abnormality of mitochondrial metabolism Palmoplantar hyperkeratosis Mutism Ventricular tachycardia Progressive muscle weakness Left ventricular hypertrophy Hypoplasia of dental enamel Ventricular hypertrophy Abnormal blistering of the skin Carious teeth Neonatal respiratory distress Ophthalmoplegia Dilated cardiomyopathy Papule Muscular dystrophy Scarring Pneumonia Myopathy Fatigue Anemia Ophthalmoparesis Keratitis Palmoplantar keratoderma Increased connective tissue Delayed eruption of teeth Protruding ear Conductive hearing impairment Punctate keratitis Decreased miniature endplate potentials Urethral stricture Muscle flaccidity Scarring alopecia of scalp Oculomotor nerve palsy Hypoplastic fingernail Aphasia Echolalia Nemaline bodies Severe postnatal growth retardation Lipoma Fatigable weakness Aplasia/Hypoplasia of the skin Skin vesicle Milia Dysphasia Narrow jaw



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