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 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

More info about 3MC SYNDROME

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;brachycephalofrontonasal dysplasia; craniofrontonasal dysplasia, teebi type; teebi hypertelorism syndrome; teebi syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Hypertelorism
  • Strabismus
  • Ptosis
  • Cryptorchidism


SOURCES: OMIM SCTID ORPHANET GARD UMLS MONDO

More info about HYPERTELORISM, TEEBI TYPE

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
  • Ptosis
  • Cleft palate


SOURCES: ORPHANET

More info about AARSKOG-SCOTT SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match 3MC SYNDROME 3; 3MC3

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 3; 3MC3 Is also known as facial clefting syndrome, gypsy type, malpuech facial clefting syndrome, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: UMLS OMIM DOID ORPHANET MONDO MESH

More info about 3MC SYNDROME 3; 3MC3

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).

KNIEST DYSPLASIA Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: MONDO SCTID GARD NCIT UMLS ORPHANET OMIM DOID MESH

More info about KNIEST DYSPLASIA

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classical Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. Type I autosomal recessive cutis laxa (ARCL1) is a specific, life-threatening disorder with organ involvement, lung atelectasis and emphysema, diverticula of the gastrointestinal and genitourinary systems, and vascular anomalies. Associated cranial anomalies, late closure of the fontanel, joint laxity, hip dislocation, and inguinal hernia have been observed but are uncommon. Diminution of elastic fibers throughout the dermis and abnormal elastin components by electron microscopy are pathognomonic (summary by Morava et al., 2009).Classification of autosomal recessive cutis laxa is further divided into type II (ARCL2), associated with bone dystrophy, joint laxity, and developmental delay; and type III (ARCL3), or de Barsy syndrome, which presents very severe symptoms, with ocular involvement and mental retardation (summary by Davidson and Giro, 2002).For a phenotypic description and a discussion of genetic heterogeneity of autosomal dominant cutis laxa, see {123700}. Genetic Heterogeneity of Autosomal Recessive Cutis LaxaARCL1A is caused by mutation in the FBLN5 gene. ARCL1B (OMIM ) is caused by mutation in the EFEMP2 gene (OMIM ), also known as FBLN4. ARCL1C (OMIM ) is caused by mutation in the LTBP4 gene (OMIM ).ARCL2A (OMIM ) is caused by mutation in the ATP6V0A2 gene (OMIM ). ARCL2B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ). ARCL2C (OMIM ) is caused by mutation in the ATP6V1E1 gene (OMIM ). ARCL2D (OMIM ) is caused by mutation in the ATP6V1A gene (OMIM ).ARCL3A (OMIM ) is caused by mutation in the ALDH18A1 gene (OMIM ). ARCL3B (OMIM ) is caused by mutation in the PYCR1 gene (OMIM ).

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A Is also known as arcl1, cutis laxa, autosomal recessive;arcl1; autosomal recessive cutis laxa with severe systemic involvement; autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Pica
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM DOID MESH UMLS MONDO SCTID

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A

High match BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS

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.

BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS Is also known as beare-stevenson syndrome, cutis gyrata syndrome of beare and stevenson;beare-stevenson cutis gyrata syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Global developmental delay
  • Hypertelorism
  • Strabismus
  • Ptosis


SOURCES: OMIM ORPHANET NCIT DOID MESH SCTID GARD UMLS MONDO

More info about BEARE-STEVENSON CUTIS GYRATA SYNDROME; BSTVS

High match EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

The Ehlers-Danlos syndrome shows phenotypic and genetic heterogeneity; see {130000}. According to the original Beighton classification (Beighton, 1970), EDS III is the benign hypermobility syndrome. Marked joint hyperextensibility without skeletal deformity dominates the clinical picture. Skin manifestations are relatively inconspicuous. Differentiation from familial joint laxity (OMIM ) is often uncertain.Beighton et al. (1998) reported on a revised nosology of the Ehlers-Danlos syndromes, designated the Villefranche classification. Major and minor diagnostic criteria were defined for each type and complemented whenever possible with laboratory findings. Six main descriptive types were substituted for earlier types numbered with Roman numerals: classic type (EDS I and II), hypermobility type (EDS III), vascular type (EDS IV), kyphoscoliosis type (EDS VI), arthrochalasia type (EDS VIIA and VIIB), and dermatosparaxis type (EDS VIIC). Six other forms were listed, including a category of 'unspecified forms.'

EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE Is also known as ehlers-danlos syndrome, type iii;eds3, eds iii, benign hypermobility syndrome;bjhs; benign joint hypermobility syndrome; eds iii; ehlers-danlos syndrome type 3; ehlers-danlos syndrome, hypermobile type; ht-eds

Related symptoms:

  • Autosomal dominant inheritance
  • Scoliosis
  • Ptosis
  • Epicanthus
  • Abnormality of the dentition


SOURCES: DOID NCIT SCTID OMIM MONDO UMLS MESH GARD ORPHANET

More info about EHLERS-DANLOS SYNDROME, HYPERMOBILITY TYPE

High match AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME Is also known as autosomal recessive non-lethal multiple pterygium syndrome; evmps; escobar syndrome; escobar variant multiple pterygium syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET

More info about AUTOSOMAL RECESSIVE MULTIPLE PTERYGIUM SYNDROME

High 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

More info about AUTOSOMAL DOMINANT ROBINOW SYNDROME

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

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases


Pectus excavatum Strabismus Short stature Cleft palate Epicanthus Global developmental delay Proptosis Oral cleft Finger syndactyly Long philtrum Micrognathia Depressed nasal bridge Low-set ears Shawl scrotum Hip dislocation Autosomal dominant inheritance Congestive heart failure Clinodactyly of the 5th finger Respiratory distress Joint hyperflexibility Elbow dislocation Midface retrusion Round face Wormian bones Conductive hearing impairment Depressivity Camptodactyly of finger Short neck Anteverted nares Hypospadias Arrhythmia Intellectual disability Short nose Telecanthus Gingival overgrowth Wide nasal bridge Highly arched eyebrow

Rare Symptoms - Less than 30% cases


Abnormal facial shape Ascending tubular aorta aneurysm Dolichocephaly Hernia Subcutaneous nodule Hearing abnormality Abnormality of the foot Motor delay Abnormality of the genital system Limitation of joint mobility Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the gingiva Pica Hypoplasia of penis Autosomal recessive inheritance Broad foot Aortic aneurysm Congenital diaphragmatic hernia Redundant skin Hypertension Small hand Joint dislocation Micromelia Oxycephaly Severe short stature Coxa vara Retrognathia Neonatal respiratory distress Malar flattening Osteoarthritis Arthralgia Gait disturbance Macrocephaly Bifid scrotum Scrotal hypoplasia Joint laxity Abnormality of the face Overgrowth Epiphyseal dysplasia Hyperextensible skin Microcephaly Ventricular septal defect Omphalocele Cognitive impairment Downturned corners of mouth Broad palm Epicanthus inversus Craniosynostosis Caudal appendage Blepharophimosis Everted lower lip vermilion Supernumerary nipple Prominent coccyx Prominent nasal bridge Prominent forehead Abnormality of the pinna Patent ductus arteriosus Frontal bossing Brachydactyly Abnormality of the dentition Hyperlordosis Cleft upper lip Spina bifida occulta Pes planus Talipes Low-set, posteriorly rotated ears Short palm Osteolysis Thin skin Mitral valve prolapse Microdontia Natal tooth Small nail Migraine Abnormality of the nail Vertigo Paresthesia Narrow palate Abnormal palate morphology Decreased fertility Decreased nerve conduction velocity Acanthosis nigricans Keratoconus Keratoconjunctivitis sicca Striae distensae Atypical scarring of skin Soft skin Acrocyanosis Gingivitis Epidermal acanthosis Abnormality of the wrist Radioulnar synostosis Postnatal growth retardation Gastrointestinal dysmotility Abnormality of the menstrual cycle Sleep disturbance Malabsorption Joint hypermobility Visceral angiomatosis Limited elbow extension Anteriorly placed anus Turricephaly Hypoplasia of the zygomatic bone Abnormality of the skull Choanal stenosis Abnormality of the pancreas Breech presentation Skin tags Aplasia/Hypoplasia of the earlobes Redundant neck skin Thickened helices Cloverleaf skull Arnold-Chiari malformation Craniofacial dysostosis Underdeveloped supraorbital ridges Palmoplantar cutis laxa Prominent umbilicus Melanocytic nevus Prominent scrotal raphe Venous insufficiency Preauricular skin furrow Fatigue Constipation Gastroesophageal reflux Myalgia Apnea Reduced number of teeth Abnormality of vision Nausea and vomiting Palmoplantar cutis gyrata Single transverse palmar crease Anorectal anomaly Blue sclerae Oligodontia Sacral dimple Hemivertebrae Coxa valga Long eyelashes Abnormal form of the vertebral bodies Hip dysplasia Long palpebral fissure Specific learning disability Hypodontia High, narrow palate Wide nose Pectus carinatum Short philtrum Open bite Increased number of teeth Posteriorly rotated ears Clitoral hypoplasia Onychogryposis of fingernail Euryblepharon Hypoplastic labia minora Ridged fingernail Abnormality of the penis Curly eyelashes Median cleft lip and palate Capillary hemangioma Fingernail dysplasia Epispadias Avascular necrosis of the capital femoral epiphysis Femoral hernia Bifid tongue Anodontia Hypoplastic labia majora Alopecia Upslanted palpebral fissure Arterial dissection Intrauterine growth retardation Long face Facial asymmetry Abnormality of movement Arthrogryposis multiplex congenita Hypogonadism Skeletal muscle atrophy High palate Webbed neck Nevus Palmoplantar keratoderma Failure to thrive Genital hernia Cystocele Tendon rupture Pulmonary hypoplasia Low posterior hairline Absence of labia majora Abnormal aortic valve morphology Morphological abnormality of the gastrointestinal tract Axillary pterygium Abnormality of skeletal morphology Antecubital pterygium Popliteal pterygium Multiple pterygia Abnormality of the tongue Pointed chin Symphalangism affecting the phalanges of the hand Rib fusion Abnormal eyelid morphology Abnormality of the sternum Aplasia/Hypoplasia of the skin Pterygium Vertebral segmentation defect Choanal atresia Bowel diverticulosis Bilateral cryptorchidism Urethral valve Kyphosis Tetralogy of Fallot Myopia Pain Flexion contracture Cataract Scrotal hypospadias Thin vermilion border Penoscrotal hypospadias Bilateral conductive hearing impairment Skin dimples Bilateral cleft lip Bilateral cleft lip and palate Short 5th finger Thick eyebrow Glaucoma Facial cleft Abnormality of the metaphysis Spondyloepiphyseal dysplasia Ectopia lentis Atrial septal defect Rhizomelia Abnormality of epiphysis morphology Recurrent otitis media High myopia Brachycephaly Retinal detachment Platyspondyly Retinal degeneration Retinopathy Joint stiffness Skeletal dysplasia Irregular vertebral endplates Preaxial polydactyly Short thorax Abnormal vertebral segmentation and fusion Abnormality of cardiovascular system morphology Behavioral abnormality Growth delay Generalized hypotonia Attention deficit hyperactivity disorder Broad forehead Abnormality of the cervical spine Female pseudohermaphroditism High anterior hairline Genu recurvatum Megalocornea External ear malformation Hypoplasia of the maxilla Delayed eruption of teeth Edema Micropenis Short toe Renal agenesis Phimosis Preauricular pit Ectopic kidney Abnormality of the genitourinary system Abnormality of the helix Widow's peak Spontaneous abortion Clinodactyly Abnormality of the kidney Cleft lip Intellectual disability, moderate Muscular hypotonia of the trunk Dimple chin Advanced eruption of teeth Flared metaphysis Arthropathy Abnormality of the eye Delayed cranial suture closure Atelectasis Pulmonary artery stenosis Functional respiratory abnormality Prematurely aged appearance Shock Progressive sensorineural hearing impairment Emphysema Cor pulmonale Diastasis recti Abnormal anterior chamber morphology Cutis laxa Abnormal nasal morphology Recurrent urinary tract infections Bilateral sensorineural hearing impairment Premature skin wrinkling Bladder diverticulum Full cheeks Renal diverticulum Macrotia Narrow mouth Agenesis of corpus callosum Hydrocephalus Ventriculomegaly Optic atrophy Arterial fibromuscular dysplasia Arterial stenosis Short foot Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ileus Oligohydramnios Vesicoureteral reflux Hip contracture Hypoplastic pelvis Lens luxation Retinal thinning Vitreoretinal degeneration Enlarged thorax Coronal cleft vertebrae Enlarged joints Tracheal stenosis Lumbar kyphoscoliosis Disproportionate short-trunk short stature Hypoplastic ilia Glossoptosis Delayed epiphyseal ossification Tracheomalacia Chorioretinal atrophy Rhegmatogenous retinal detachment Dumbbell-shaped long bone Recurrent fractures Recurrent respiratory infections Hemolytic anemia Arachnodactyly Pulmonic stenosis Large fleshy ears Hypothyroidism Osteoporosis Dilatation Abnormal cartilage collagen Heterogeneous Limited pronation/supination of forearm Anemia Sensorineural hearing impairment Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Naevus flammeus of the eyelid



Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more

Other signs and symptoms that you may find interesting

Neuroblastoma and Pallor, related diseases and genetic alterations Depressed nasal bridge and Hyperinsulinemia, related diseases and genetic alterations High palate and Thrombocytopenia, related diseases and genetic alterations