Ptosis, and Umbilical hernia

Diseases related with Ptosis and Umbilical hernia

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


Top matches:

High 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

High 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

High 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

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Other less relevant matches:

High 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

High match AARSKOG-SCOTT SYNDROME


Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

High match CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME


Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.

CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME Is also known as beare-stevenson syndrome|cutis gyrata syndrome of beare and stevenson|beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS GYRATA-ACANTHOSIS NIGRICANS-CRANIOSYNOSTOSIS SYNDROME

High match 3MC SYNDROME 2; 3MC2


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 2; 3MC2 Is also known as ptosis of eyelids with diastasis recti and hip dysplasia|oculo-skeletal-abdominal syndrome|carnevale syndrome, formerly|osa syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about 3MC SYNDROME 2; 3MC2

High match HYPERTELORISM, TEEBI TYPE


Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).

HYPERTELORISM, TEEBI TYPE Is also known as brachycephalofrontonasal dysplasia|craniofrontonasal dysplasia, teebi type|teebi syndrome|teebi hypertelorism syndrome

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERTELORISM, TEEBI TYPE

High match MONOSOMY 22Q13


Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

Top 5 symptoms//phenotypes associated to Ptosis and Umbilical hernia

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Epicanthus Uncommon - Between 30% and 50% cases
Craniosynostosis Uncommon - Between 30% and 50% cases
Downslanted palpebral fissures Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Scoliosis Wide nasal bridge Intellectual disability Cleft palate Cryptorchidism Global developmental delay Depressed nasal bridge Low-set ears Hip dislocation Dolichocephaly Proptosis Round face Generalized hypotonia Short stature Respiratory distress Oral cleft Highly arched eyebrow Hernia Clinodactyly of the 5th finger Prominent nasal bridge Malar flattening Macrotia Short neck

Rare Symptoms - Less than 30% cases


Ectopia lentis Midface retrusion Depressivity Pectus excavatum Conductive hearing impairment Glaucoma Short nose Abnormality of the dentition Atrial septal defect Myopia Cataract Behavioral abnormality Hydronephrosis Macrocephaly Omphalocele Anteverted nares Inguinal hernia Cognitive impairment Everted lower lip vermilion Low-set, posteriorly rotated ears Small hand Broad forehead Broad palm Thick eyebrow Cleft upper lip Cleft lip Broad foot Hypospadias Long philtrum Micrognathia Hypermetropia Shawl scrotum Finger syndactyly Radioulnar synostosis Abnormality of the pinna Seizures Caudal appendage Abnormal facial shape Hyperlordosis Postnatal growth retardation Flexion contracture Feeding difficulties Epicanthus inversus Optic atrophy Ventriculomegaly Patent ductus arteriosus Telecanthus Blepharophimosis Natal tooth Downturned corners of mouth Diastasis recti Supernumerary nipple Bilateral cryptorchidism Agenesis of corpus callosum Overgrowth Vesicoureteral reflux Protruding ear Joint hypermobility Acanthosis nigricans Abnormal vertebral morphology Hearing abnormality Narrow palate Abnormality of the nail Gingival overgrowth Muscular hypotonia of the trunk Abnormality of the face Choanal atresia Horseshoe kidney Small nail Torticollis Epidermal acanthosis Palmoplantar keratoderma Abnormality of the eye Narrow mouth Ectropion Subcutaneous nodule Arnold-Chiari malformation Abnormal heart morphology Thickened helices Skin tags Hypoplasia of the zygomatic bone Turricephaly Breech presentation Underdeveloped supraorbital ridges Abnormality of the pancreas Anteriorly placed anus Aplasia/Hypoplasia of the earlobes Redundant neck skin Limited elbow extension Bifid scrotum Cloverleaf skull Oxycephaly Growth delay Visceral angiomatosis Craniofacial dysostosis Melanocytic nevus Redundant skin Reduced number of teeth Palmoplantar cutis laxa Prominent umbilicus Prominent scrotal raphe Palmoplantar cutis gyrata Abnormality of vision Abnormality of the skull Preauricular skin furrow Choanal stenosis Brachycephaly Abnormality of the vertebral column Gastroesophageal reflux Sleep disturbance Bulbous nose Nausea and vomiting Autistic behavior Neonatal hypotonia Deeply set eye Hyperactivity Dental malocclusion Obesity Immunodeficiency Delayed speech and language development Female pseudohermaphroditism Broad eyebrow Dimple chin Advanced eruption of teeth Full cheeks Renal dysplasia Widow's peak Hypoplastic toenails Hair-pulling Cerebellar cortical atrophy Bruxism Arachnoid cyst Palpebral edema Impaired pain sensation Large hands Long eyelashes Recurrent skin infections Sacral dimple Accelerated skeletal maturation Pointed chin Lymphedema Hypohidrosis Dental crowding Abnormality of the helix Lipoma Bilateral cleft lip Prominence of the premaxilla Arrhythmia Clinodactyly Ventricular septal defect Frontal bossing Brachydactyly Partial abdominal muscle agenesis Esodeviation Hypertension Limited elbow movement Hypoplasia of the musculature Bilateral conductive hearing impairment Broad philtrum Bilateral cleft lip and palate Short 5th finger Depressed nasal tip Prominent forehead Thin upper lip vermilion Sprengel anomaly Atrioventricular block Long palpebral fissure High hypermetropia Ectopic kidney Preauricular pit Heart murmur Deep philtrum Short chin Joint laxity Finger clinodactyly Short toe Congenital diaphragmatic hernia Tetralogy of Fallot Broad nasal tip Wide nose Thin vermilion border Hydrocephalus Joint stiffness Abnormal cartilage collagen Iris hypopigmentation Photophobia Corneal opacity Congenital cataract Microcornea Short palpebral fissure Abnormality of the genital system Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Keratitis Keratoconus Keratoconjunctivitis sicca Aniridia Posterior embryotoxon Hypoplasia of the iris Sensorineural hearing impairment Increased intraocular pressure Sclerocornea Corneal erosion Ectopia pupillae Optic nerve coloboma Abnormality of the optic nerve Corneal neovascularization Anterior segment developmental abnormality Peters anomaly Abnormality of the hypothalamus-pituitary axis Anterior synechiae of the anterior chamber Macular hypoplasia Posterior polar cataract Aplasia/Hypoplasia of the iris Visual impairment Nystagmus Polycoria Abnormal anterior chamber morphology Plagiocephaly Large for gestational age Neonatal hypoglycemia Multiple renal cysts Fragile nails Hyperinsulinemic hypoglycemia Hemihypertrophy Deep palmar crease Moderate global developmental delay Abdominal wall muscle weakness Deep-set nails Abnormality of the hairline Abnormality of the palpebral fissures Spina bifida occulta Abnormal nasal morphology Tethered cord Large fleshy ears Limited pronation/supination of forearm Prominent coccyx Blindness Jaundice Developmental regression Pulmonic stenosis Wide intermamillary distance Coarctation of aorta Cerebral visual impairment Absence seizures Hypoplastic left heart Cystic hygroma Double outlet right ventricle Rieger anomaly Abnormality of the sense of smell Flattened, squared-off epiphyses of tubular bones Glossoptosis Recurrent otitis media Abnormality of the metaphysis Abnormality of epiphysis morphology Rhizomelia Joint dislocation Coxa vara Neonatal respiratory distress Spondyloepiphyseal dysplasia Flared metaphysis Short thorax Chorioretinal atrophy Arthropathy Hip contracture Tracheomalacia Bell-shaped thorax High myopia Vitreoretinopathy Delayed epiphyseal ossification Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Enlarged joints Coronal cleft vertebrae Enlarged thorax Lens luxation Rhegmatogenous retinal detachment Dumbbell-shaped long bone Lumbar kyphoscoliosis Splayed epiphyses Osteoarthritis Retinal detachment Axenfeld anomaly Hyperextensible skin Aphakia Macular hypopigmentation Congestive heart failure Abnormality of cardiovascular system morphology Pes planus Camptodactyly of finger Attention deficit hyperactivity disorder Joint hyperflexibility Talipes Short palm Short foot Single transverse palmar crease Delayed eruption of teeth Hypoplasia of the maxilla Megalocornea Micromelia Abnormality of the skeletal system Platyspondyly Retinopathy Skeletal dysplasia Retrognathia Severe short stature Kyphosis Gait disturbance External ear malformation Motor delay Pain Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Genu recurvatum Recurrent pyelonephritis



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