Ptosis, and Ectodermal dysplasia

Diseases related with Ptosis and Ectodermal dysplasia

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


Top matches:

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Medium match HARTSFIELD SYNDROME


Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.

HARTSFIELD SYNDROME Is also known as holoprosencephaly-ectrodactyly-cleft lip/palate syndrome|holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HARTSFIELD SYNDROME

Medium 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

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Other less relevant matches:

Medium 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

Medium match CHIME SYNDROME


CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.

CHIME SYNDROME Is also known as coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome|zunich-kaye syndrome|zunich neuroectodermal syndrome|neuroectodermal syndrome, zunich type|chime syndrome|gpibd5|pigl-cdg|neuroectodermal dysplasia,

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHIME SYNDROME

Low match FOCAL DERMAL HYPOPLASIA


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

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Low match EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4


FFEVF4 is an autosomal dominant seizure disorder characterized by onset of focal seizures in the first years of life. Some patients may have secondary generalization and/or mild developmental deficits (summary by Vanoye et al., 2014).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4; FFEVF4

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE


Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type|epidermolysis bullosa simplex, kÖbner type|generalized epidermolysis bullosa simplex, non-dowling-meara type|ebs, generalized intermediate|epidermolysis bullosa simplex, koebner type

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

Low match WAARDENBURG SYNDROME TYPE 2


Waardenburg syndrome type 2 (WS2) is an autosomal dominant subtype of Waardenburg syndrome (WS; see this term), characterized by varying degrees of deafness and pigmentation anomalies of eyes, hair and skin, but without dystopia canthorum.

WAARDENBURG SYNDROME TYPE 2 Is also known as ws2|waardenburg syndrome type ii

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Ptosis
  • Telecanthus
  • Abnormality of the kidney


SOURCES: ORPHANET MENDELIAN

More info about WAARDENBURG SYNDROME TYPE 2

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

Symptoms // Phenotype % cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Hyperhidrosis Syndactyly Wide nasal bridge Sparse hair Seizures Growth delay Ectrodactyly Abnormality of dental enamel Hypertelorism Hypodontia Thin skin Fine hair Cleft lip Low-set ears Micrognathia Ventricular septal defect Hypotrichosis Clinodactyly of the 5th finger Abnormality of digit Camptodactyly Depressed nasal bridge Hydronephrosis Brachydactyly Abnormality of dental morphology Cleft upper lip Abnormal heart morphology Strabismus Generalized hypotonia Abnormality of the dentition Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Nail dysplasia Non-midline cleft lip Broad-based gait Dental malocclusion Intellectual disability, profound Wide nose Dermal atrophy Oligodontia Cutaneous syndactyly Narrow mouth Alopecia Small nail High forehead Short philtrum Frontal bossing Delayed speech and language development Feeding difficulties Hernia Muscular hypotonia Inguinal hernia Brachycephaly Hyperactivity Autism Joint laxity Abnormality of the nail Attention deficit hyperactivity disorder Conical tooth Conductive hearing impairment Abnormality of the foot Facial asymmetry Recurrent skin infections Narrow nose Short phalanx of finger Supernumerary nipple Widely spaced teeth Bifid uvula Short palm Palmoplantar keratoderma Delayed eruption of teeth Finger syndactyly Protruding ear Split hand Telecanthus Intrauterine growth retardation Abnormality of the skeletal system Cognitive impairment Multicystic kidney dysplasia Abnormality of epiphysis morphology Corneal opacity Coloboma Cryptorchidism Epicanthus Renal dysplasia Brittle hair Hypoplastic nipples Downslanted palpebral fissures Agenesis of corpus callosum Nystagmus Erythema Sensorineural hearing impairment Muscle weakness Posteriorly rotated ears Hypospadias Microphthalmia Respiratory insufficiency Aplasia/Hypoplasia of the nipples Subcutaneous nodule Peripheral pulmonary artery stenosis Spina bifida Retinal coloboma Ureteropelvic junction obstruction Hoarse voice Short ribs Hypoplasia of dental enamel Long foot Telangiectasia Transposition of the great arteries Acute leukemia Keratitis Short metatarsal Reduced number of teeth Arnold-Chiari malformation Renal hypoplasia/aplasia Overfolded helix Erythroderma Large hands Spina bifida occulta Acute lymphoblastic leukemia Large for gestational age Decreased fertility Aplastic clavicle Increased number of teeth Horseshoe kidney Congenital hip dislocation Pointed chin Increased body weight Omphalocele Aplasia/Hypoplasia of the phalanges of the hand Renal hypoplasia Pruritus Polydactyly Intestinal malrotation Broad nasal tip Iris coloboma Abnormality of skin pigmentation Toe syndactyly Weight loss Reduced visual acuity Nail dystrophy Short metacarpal Papule Microtia Cough Camptodactyly of finger Abnormal cardiac septum morphology Gastroesophageal reflux Scarring Umbilical hernia Abdominal pain Abnormality of the skin Interphalangeal joint contracture of finger Low-set nipples Duplicated collecting system Congenital diaphragmatic hernia Clubbing of toes Abnormality of the pinna Postaxial hand polydactyly Pulmonary valve atresia Violent behavior Aplasia/Hypoplasia of the phalanges of the toes Scoliosis Patent ductus arteriosus Overgrowth Neoplasm Optic atrophy Dysphagia Hydrocephalus Blindness Abnormality of cardiovascular system morphology Obesity Clinodactyly Hand polydactyly Myelomeningocele Ectopia lentis Ectopia cordis Jaundice Splenomegaly Hepatomegaly Anemia Midclavicular aplasia Midclavicular hypoplasia Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Bifid ureter Pallor Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Caudal appendage Ridged fingernail Absence of the sacrum Patchy alopecia Hepatosplenomegaly Macrocytic anemia Reticular hyperpigmentation Milia White forelock Heterochromia iridis Hypopigmentation of hair Premature graying of hair Hypopigmented skin patches Aganglionic megacolon Generalized hyperkeratosis Subcutaneous hemorrhage Abnormal pattern of respiration Oral leukoplakia Fatigable weakness Ophthalmoparesis Reticulocytosis Abnormal blistering of the skin Failure to thrive Flushing Abnormal autonomic nervous system physiology Focal-onset seizure Erythroid hyperplasia Congenital hypoplastic anemia Increased total bilirubin Poikilocytosis Anemia of inadequate production Anisocytosis Upper limb asymmetry Absent fingernail Ectropion Aplasia/Hypoplasia of the skin Hiatus hernia Split foot Hypoplasia of the iris Foot polydactyly Aniridia Short clavicles Oligodactyly Facial cleft Aplasia cutis congenita Anteriorly placed anus Telangiectasia of the skin Narrow nasal bridge Stenosis of the external auditory canal Vertebral fusion Colitis Macule Mixed hearing impairment Short finger Hypermelanotic macule Open bite Mild short stature Anophthalmia Stridor Chorioretinal coloboma Aplasia/Hypoplasia of the lungs Truncus arteriosus Foot oligodactyly Bifid nose Abnormality of the middle ear Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Abnormal cornea morphology Hand oligodactyly Ureteral duplication Skin nodule Diastasis recti Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Growth abnormality Long nose Palmoplantar hyperkeratosis Absent septum pellucidum Hypoplasia of the frontal bone Duplication of thumb phalanx Hypernatremia Semilobar holoprosencephaly Long hallux Central diabetes insipidus Gonadotropin deficiency Megalocornea Aplasia/Hypoplasia of the radius Diabetes insipidus Pulmonary hypoplasia Hypoplasia of the brainstem Poor head control Aplasia/Hypoplasia of the corpus callosum Holoprosencephaly Encephalocele Hypotelorism Oral cleft Severe global developmental delay Craniosynostosis Lobar holoprosencephaly Hypoplasia of the maxilla Neonatal hypotonia Dystrophic fingernails Trichodysplasia Velopharyngeal insufficiency Hyperconvex nail Ankyloblepharon Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Cystic renal dysplasia Dry hair Thick nail Pili torti Underdeveloped nasal alae Dystrophic toenail Hypoplastic labia majora Generalized hyperpigmentation Submucous cleft hard palate Abnormality of the voice Coarse hair Sparse eyelashes Sparse and thin eyebrow Hypohidrosis Recurrent otitis media Low-set, posteriorly rotated ears Micropenis Absent lacrimal punctum Vesicoureteral reflux Abnormality of the urinary system Chronic kidney disease Hyperkinesis Ischemic stroke Nephrocalcinosis Hypocalcemia Horizontal nystagmus Nephrotic syndrome Bilateral sensorineural hearing impairment Hematuria Polycystic kidney dysplasia Stroke Proteinuria Myalgia Acidosis Diabetes mellitus Rod-cone dystrophy Renal insufficiency Cardiomyopathy Pain Polycystic ovaries Psoriasiform dermatitis Hypogonadism Distal renal tubular acidosis Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Uterus didelphys Unilateral renal agenesis Hypocalcemic seizures Aplasia of the uterus Ovarian cyst Vaginal atresia Tetany Severe postnatal growth retardation Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Hyperconvex fingernails Pili canaliculi Abnormality of the outer ear Generalized osteoporosis Incomprehensible speech Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Happy demeanor Pes valgus Overbite Excessive salivation Cleft soft palate Conspicuously happy disposition Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Restlessness Myopathic facies Bilateral talipes equinovarus Overlapping toe Relative macrocephaly Narrow maxilla Narrow jaw Drooling Webbed neck Abnormal dermatoglyphics Osteolysis Skin ulcer Joint contracture of the hand Tall stature Depressed nasal ridge Thick lower lip vermilion Tetralogy of Fallot Microdontia Short foot Cerebral atrophy Thick vermilion border Ichthyosis Hip dislocation Leukemia Wide mouth Abnormality of the nervous system Hyperkeratosis Cerebral cortical atrophy Upslanted palpebral fissure Prominent forehead Tented upper lip vermilion Microretrognathia Submucous cleft soft palate Anteverted nares Thin upper lip vermilion Osteopenia Osteoporosis Absent speech Midface retrusion Malar flattening Long philtrum Behavioral abnormality Intellectual disability, severe Talipes equinovarus Aggressive behavior Macrocephaly Hyperreflexia High palate Flexion contracture Spasticity Abnormal facial shape Decreased number of sweat glands Progressive alopecia Small, conical teeth Anxiety Postnatal growth retardation Long eyelashes Downturned corners of mouth Dental crowding Broad thumb Hemiparesis Short palpebral fissure Decreased testicular size Convex nasal ridge Febrile seizures Prominent nose Sleep disturbance Thick eyebrow Prominent nasal bridge Bulbous nose Thin vermilion border Long face Arachnodactyly Smooth philtrum Talipes Joint hyperflexibility Poor speech Abnormality of the cerebral white matter Broad forehead Abnormality of the pulmonary artery



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