Ptosis, and Overgrowth

Diseases related with Ptosis and Overgrowth

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


Top matches:

High match SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME


Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration|kosaki overgrowth syndrome

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about SKELETAL OVERGROWTH-CRANIOFACIAL DYSMORPHISM-HYPERELASTIC SKIN-WHITE MATTER LESIONS SYNDROME

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 CLOVES SYNDROME


CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

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Other less relevant matches:

High 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

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 LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

High match 17Q11.2 MICRODUPLICATION SYNDROME


17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.

17Q11.2 MICRODUPLICATION SYNDROME Is also known as trisomy 17q11.2|nf1 microdeletion syndrome|van asperen syndrome|grisart-destrÉe syndrome|dup(17)(q11.2)|neurofibromatosis 1 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q11.2 MICRODUPLICATION SYNDROME

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

High match MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR


Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

High match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Top 5 symptoms//phenotypes associated to Ptosis and Overgrowth

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

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Tall stature Seizures Pectus excavatum Sensorineural hearing impairment Proptosis Strabismus Downslanted palpebral fissures Depressed nasal bridge Optic atrophy Abnormality of the skeletal system Umbilical hernia Malar flattening Midface retrusion Mandibular prognathia Microcephaly Abnormal facial shape Neonatal hypotonia Nystagmus Dolichocephaly Macrotia Generalized hypotonia Wide nasal bridge Thin upper lip vermilion Epicanthus Cryptorchidism Cleft palate Hypertension Muscular hypotonia Dilatation Neoplasm Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Cognitive impairment Patent foramen ovale Pulmonic stenosis Mitral regurgitation Syncope Joint hypermobility Hernia Underdeveloped supraorbital ridges Protruding ear Arrhythmia Subcutaneous nodule Kyphoscoliosis Pectus carinatum Bilateral sensorineural hearing impairment Respiratory distress Anteverted nares Growth delay Arachnodactyly Inguinal hernia Visual loss Hyperactivity Abnormality of the face Full cheeks Hypospadias Long foot Hemihypertrophy Micrognathia Spasticity Low-set ears Delayed speech and language development Vesicoureteral reflux Congestive heart failure Abnormality of cardiovascular system morphology Agenesis of corpus callosum Abnormal heart morphology Attention deficit hyperactivity disorder Pointed chin Joint hyperflexibility Specific learning disability Cafe-au-lait spot Prominent forehead Depressivity Cataract Craniosynostosis Facial asymmetry Redundant skin Arterial fibromuscular dysplasia Ileus Arterial stenosis Ascending tubular aorta aneurysm Dermal translucency Broad neck Hip dislocation Joint laxity Arthralgia Vascular tortuosity Alopecia of scalp Anemia Congenital hemolytic anemia Supravalvular aortic stenosis Renal diverticulum Bowel diverticulosis Cor pulmonale Myopia Hypoplasia of the corpus callosum Atrial septal defect Edema Neurofibromas Hypothyroidism Intellectual disability, severe Blindness Hypertonia Osteoporosis Recurrent respiratory infections Long philtrum Microphthalmia Bladder diverticulum Neurofibrosarcoma Atelectasis Epiphyseal dysplasia Subcutaneous neurofibromas Deviated nasal septum Axillary freckling Lisch nodules Recurrent urinary tract infections Overbite Thick nasal alae Bifid nose Wormian bones Cutis laxa Plexiform neurofibroma Shock Congenital diaphragmatic hernia Aortic aneurysm Oligohydramnios Optic nerve glioma Emphysema Focal T2 hyperintense basal ganglia lesion Delayed cranial suture closure Severe short stature Recurrent fractures Bone cyst Progressive sensorineural hearing impairment Prematurely aged appearance Shawl scrotum Pulmonary artery stenosis Premature skin wrinkling Hemolytic anemia Spinal neurofibromas Inguinal freckling Macroorchidism Broad nasal tip Upslanted palpebral fissure Posteriorly rotated ears Depressed nasal ridge Myocardial infarction Webbed neck Chest pain Triangular face Delayed puberty Hypertrophic cardiomyopathy Conductive hearing impairment Micropenis Hyperkeratosis Alopecia Aortic valve stenosis Kyphosis Cardiomyopathy Respiratory insufficiency Short neck Fatigue Pain Chorioretinal lacunae Melanonychia Myopic astigmatism Chorioretinal dysplasia Abnormality of the genital system Scapular winging Retinal thinning Abnormal mitral valve morphology Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Multiple lentigines Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Hyposmia Spina bifida occulta Angina pectoris Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Bilateral cryptorchidism Unilateral renal agenesis Cubitus valgus Pterygium Mutism Exudative vitreoretinopathy Panniculitis Glaucoma Thick vermilion border Thickened skin Thick lower lip vermilion Status epilepticus Sloping forehead Pigmentary retinopathy Lymphoma Sparse eyelashes Microcornea Sleep disturbance Retinal detachment Retinal dystrophy Abnormality of retinal pigmentation Wide nose Dry skin Astigmatism Hypermetropia Corneal opacity Leukemia Retinopathy Aggressive behavior Rigidity Reduced visual acuity Amblyopia Lymphedema Erysipelas Abnormal eyelash morphology Abnormal nasolacrimal system morphology Prominent nasal tip Congenital microcephaly Retinal fold Chylothorax Leukonychia Retinal dysplasia Abnormal toenail morphology Vitreoretinopathy Gangrene Cellulitis Skin ulcer Chorioretinal atrophy Cortical gyral simplification Agitation Flat occiput Anophthalmia Scaling skin Bilateral ptosis Deep philtrum Optic nerve hypoplasia Venous thrombosis Muscle stiffness Large hands Reduced subcutaneous adipose tissue Abnormality of dental enamel Syndactyly Increased bone mineral density Nail dysplasia Esotropia Dental malocclusion Finger syndactyly Paralysis Facial palsy Headache Frontal bossing Increased intracranial pressure Pelvic mass Enlarged peripheral nerve Splayed toes Epididymal cyst Encephalomalacia Macrodactyly Hemimegalencephaly Epidermal nevus Cutaneous syndactyly Anosmia Capillary malformation Esodeviation Cortically dense long tubular bones Facial palsy secondary to cranial hyperostosis Curved distal phalanges of the hand Sclerotic scapulae 2-3 finger syndactyly Trigeminal neuralgia Sclerotic vertebral endplates Broad clavicles Deviation of finger Abnormality of pelvic girdle bone morphology Diaphyseal thickening Fingernail dysplasia Craniofacial hyperostosis Abnormality of the nose Abnormal cortical bone morphology Broad ribs Abnormal cranial nerve morphology Hyperostosis Constriction of peripheral visual field Cranial asymmetry Venous malformation Hydrocephalus Thoracolumbar scoliosis Hyperinsulinemic hypoglycemia Fragile nails Multiple renal cysts Neonatal hypoglycemia Large for gestational age Plagiocephaly Auditory hallucinations Xanthelasma Fragile skin Moderate global developmental delay Narrow nasal bridge Prominent supraorbital ridges Hyperextensible skin Hallucinations Thin skin Progressive neurologic deterioration Cerebral calcification Anxiety Deep palmar crease Abdominal wall muscle weakness Cranial hyperostosis Horizontal nystagmus Spinal dysraphism Tethered cord Lower limb asymmetry Lipoma Lipoatrophy Partial agenesis of the corpus callosum Renal hypoplasia/aplasia Sandal gap Insulin resistance Deep-set nails Generalized-onset seizure Renal agenesis Nevus Congenital cataract Hypoglycemia Constipation Splenomegaly Abnormality of the palpebral fissures Abnormality of the hairline Ventriculomegaly Narrow mouth Sparse and thin eyebrow Mitral valve prolapse Cerebral hemorrhage Ectopia lentis Atrioventricular block Aortic regurgitation Joint contracture of the hand Exotropia Osteoarthritis Blue sclerae Bifid uvula Abnormality of the sternum Bruising susceptibility Long face Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Abnormal cardiac septum morphology Pes planus Retrognathia Decreased muscle mass Celiac disease Hyporeflexia Arterial dissection Hypoplasia of dental enamel Thin vermilion border Coarse facial features Pes cavus Macrocephaly Increased arm span Cervical spine instability Bilateral coxa valga Ascending aortic dissection Long palpebral fissure Arterial tortuosity Graves disease Cleft soft palate Spondylolisthesis Broad face Aortic dissection Hiatus hernia Soft skin Aortic root aneurysm Brachycephaly Talipes equinovarus Low-set, posteriorly rotated ears Acanthosis nigricans Anteriorly placed anus Natal tooth Limited elbow extension Bifid scrotum Melanocytic nevus Reduced number of teeth Abnormality of vision Arnold-Chiari malformation Narrow palate Hearing abnormality Abnormality of the nail Gingival overgrowth Choanal atresia Small nail Epidermal acanthosis Palmoplantar keratoderma Prominent nasal bridge Abnormality of the eye Turricephaly Abnormality of the skull Ventricular septal defect Craniofacial dysostosis Motor delay High palate Flexion contracture Preauricular skin furrow Palmoplantar cutis gyrata Prominent scrotal raphe Prominent umbilicus Palmoplantar cutis laxa Visceral angiomatosis Skin tags Oxycephaly Thickened helices Cloverleaf skull Redundant neck skin Aplasia/Hypoplasia of the earlobes Abnormality of the pancreas Breech presentation Choanal stenosis Hypoplasia of the zygomatic bone Aplasia of the ovary



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