Ptosis, and Hernia

Diseases related with Ptosis and Hernia

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


Top matches:

Low match ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME


Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME Is also known as distal arthrogryposis with ophthalmoplegia|distal arthrogryposis type 5|oculomelic amyoplasia|distal arthrogryposis type iib

Related symptoms:

  • Ptosis
  • Visual impairment
  • Optic atrophy
  • Pectus excavatum
  • Inguinal hernia


SOURCES: ORPHANET MENDELIAN

More info about ARTHROGRYPOSIS-OCULOMOTOR LIMITATION-ELECTRORETINAL ANOMALIES SYNDROME

Low match TRISOMY XQ28


Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.

TRISOMY XQ28 Is also known as distal duplication xq|telomeric duplication xq

Related symptoms:

  • Global developmental delay
  • Short stature
  • Cryptorchidism
  • Ptosis
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about TRISOMY XQ28

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

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Other less relevant matches:

Low match FREEMAN-SHELDON SYNDROME


Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65; MRT65

Low match 3MC SYNDROME


3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

3MC SYNDROME Is also known as craniofacial-ulnar-renal syndrome|malpuech-michels-mingarelli-carnevale syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis


SOURCES: ORPHANET MENDELIAN

More info about 3MC SYNDROME

Low match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Low match CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Abnormal facial shape
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY; CAFDADD

Low match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Low match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

Top 5 symptoms//phenotypes associated to Ptosis and Hernia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Cryptorchidism Hearing impairment Macrotia Downslanted palpebral fissures Joint stiffness Epicanthus Abnormal facial shape

Rare Symptoms - Less than 30% cases


Craniosynostosis Nystagmus Dolichocephaly Hip dislocation Visual impairment Hypertelorism Generalized hypotonia Abnormality of the dentition Talipes equinovarus Abnormality of the pinna Neurological speech impairment Blepharophimosis Dimple chin Optic atrophy Pectus excavatum Deeply set eye Supernumerary nipple Atrial septal defect Myopia Feeding difficulties Growth delay Seizures Hypospadias Absent palmar crease Short stature Optic nerve hypoplasia Photophobia Aplasia/Hypoplasia of the corpus callosum Corneal opacity Opacification of the corneal stroma Congenital cataract Keratitis Abnormality of the genital system Keratoconjunctivitis sicca Keratoconus Microcornea Ectopia lentis Short palpebral fissure Absence seizures Glaucoma Patent ductus arteriosus Central apnea Abnormal corpus callosum morphology Meningoencephalocele Episodic tachypnea Brainstem dysplasia Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Flexion contracture Ventriculomegaly Respiratory distress Blindness Jaundice Behavioral abnormality Developmental regression Pulmonic stenosis Wide intermamillary distance Coarctation of aorta Cerebral visual impairment Posterior embryotoxon Hypoplastic left heart Cystic hygroma Double outlet right ventricle Tethered cord Sensorineural hearing impairment Cataract Aniridia Abnormality of the hypothalamus-pituitary axis Iris hypopigmentation Hyperextensible skin Scarring Papule Bruising susceptibility Webbed neck Mitral valve prolapse Low posterior hairline Osteoarthritis Narrow palate Cutis laxa Redundant skin Osteopenia Bilateral ptosis Hallux valgus Atrophic scars Thoracic scoliosis Abnormality of the vasculature Thin eyebrow Knee dislocation Squared iliac bones Shoulder dislocation Ventral hernia Pes planus Osteoporosis Hypoplasia of the iris Anterior synechiae of the anterior chamber Increased intraocular pressure Sclerocornea Corneal erosion Ectopia pupillae Optic nerve coloboma Abnormality of the optic nerve Corneal neovascularization Anterior segment developmental abnormality Peters anomaly Occipital encephalocele Macular hypoplasia Short neck Posterior polar cataract Aplasia/Hypoplasia of the iris Rieger anomaly Polycoria Abnormality of the sense of smell Axenfeld anomaly Aphakia Macular hypopigmentation Micrognathia Abnormality of the skeletal system Severe postnatal growth retardation Polydactyly Abnormal retinal morphology Long philtrum Deep palmar crease Moderate global developmental delay Abdominal wall muscle weakness Deep-set nails Abnormality of the hairline Abnormality of the palpebral fissures Failure to thrive Wide nasal bridge Narrow mouth Hyperinsulinemic hypoglycemia Polyhydramnios Feeding difficulties in infancy Camptodactyly of finger Underdeveloped nasal alae Oligohydramnios Depressed nasal ridge Nasal speech Ulnar deviation of finger Malignant hyperthermia Hemihypertrophy Fragile nails Hypoplasia of the corpus callosum Delayed skeletal maturation Ophthalmoplegia Arachnodactyly Triangular face Abnormal electroretinogram Bilateral talipes equinovarus Deviation of finger Congenital finger flexion contractures Gait disturbance Intellectual disability, severe Severe global developmental delay Multiple renal cysts Everted lower lip vermilion Tented upper lip vermilion Abnormality of chromosome segregation Hernia of the abdominal wall Vesicoureteral reflux Overgrowth Plagiocephaly Large for gestational age Neonatal hypoglycemia Prenatal movement abnormality Camptodactyly Nephronophthisis Retinal dystrophy Prominent coccyx Ataxia Renal insufficiency Abnormality of the eye Apnea Abnormality of eye movement Genu valgum Stage 5 chronic kidney disease Postaxial polydactyly Renal cyst Large fleshy ears Postaxial hand polydactyly Apraxia Renal hypoplasia Encephalocele Horizontal nystagmus Oculomotor apraxia Mutism Hypoplasia of the brainstem Molar tooth sign on MRI Limited pronation/supination of forearm Caudal appendage Prominent nasal bridge Hyperlordosis Smooth philtrum Astigmatism Thin vermilion border Bulbous nose Prominent metopic ridge Low hanging columella Square face Low-set ears Telecanthus Postnatal growth retardation Epicanthus inversus Oral cleft Downturned corners of mouth Highly arched eyebrow Spina bifida occulta Radioulnar synostosis Bilateral cryptorchidism Diastasis recti Abnormal anterior chamber morphology Abnormal nasal morphology Bursitis



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