Cataract, and Thin skin

Diseases related with Cataract and Thin skin

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


Top matches:

Medium match ACROGERIA


ACROGERIA Is also known as acrometageria|metageria|acrogeria, gottron type|gottron syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ACROGERIA

Medium match DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME


Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by bone infarctions, cortical growth abnormalities, pathological fractures, and development of bone sarcoma (malignant fibrous histiocytoma).

DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME Is also known as hardcastle syndrome|myopathy, limb-girdle, with bone fragility|bone dysplasia with medullary fibrosarcoma|diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome|bone dysplasia-medullary fibrosarcoma syndrome|bdmf|bone dysplasia with maligna

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Osteopenia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME

Medium match OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

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Other less relevant matches:

Medium match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY


Related symptoms:

  • Short stature
  • Hearing impairment
  • Muscular hypotonia
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Medium match CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3


Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Medium match CUSHING DISEASE


Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma.

CUSHING DISEASE Is also known as corticotroph pituitary adenoma|pituitary-dependent cushing syndrome|pituitary corticotroph micro-adenoma

Related symptoms:

  • Failure to thrive
  • Cataract
  • Visual impairment
  • Hypertension
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about CUSHING DISEASE

Medium match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1


ACTH-independent macronodular adrenal hyperplasia (AIMAH) is an endogenous form of adrenal Cushing syndrome characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal glands. Although some familial cases have been reported, the vast majority of AIMAH cases are sporadic. Patients typically present in the fifth and sixth decades of life, approximately 10 years later than most patients with other causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).Approximately 10 to 15% of adrenal Cushing syndrome is due to primary bilateral ACTH-independent adrenocortical pathology. The 2 main subtypes are AIMAH and primary pigmented nodular adrenocortical disease (PPNAD, see {610489}), which is often a component of the Carney complex (OMIM ) and associated with mutations in the PRKAR1A gene (OMIM ) on chromosome 17q23-q24. AIMAH is rare, representing less than 1% of endogenous causes of Cushing syndrome (Swain et al., 1998; Christopoulos et al., 2005).See also ACTH-independent Cushing syndrome (OMIM ) due to somatic mutation in the PRKACA gene (OMIM ).Cushing 'disease' (OMIM ) is an ACTH-dependent disorder caused in most cases by pituitary adenomas that secrete excessive ACTH. Genetic Heterogeneity of ACTH-Independent Macronodular Adrenal HyperplasiaAIMAH2 (OMIM ) is caused by germline mutation of 1 allele of the ARMC5 gene (OMIM ) coupled with a somatic mutation in the other allele.

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1 Is also known as acth-independent macronodular adrenocortical hyperplasia|cushing syndrome, adrenal, due to aimah|corticotropin-independent macronodular adrenal hyperplasia|adrenocorticotropic hormone-independent macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Failure to thrive
  • Muscle weakness
  • Cataract
  • Visual impairment


SOURCES: OMIM MESH MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; AIMAH1

Medium match KNOBLOCH SYNDROME


Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele.

KNOBLOCH SYNDROME Is also known as retinal detachment and occipital encephalocele|knobloch-layer syndrome|retinal detachment-occipital encephalocele syndrome|kno

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about KNOBLOCH SYNDROME

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT SYNDROME

Medium match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Top 5 symptoms//phenotypes associated to Cataract and Thin skin

Symptoms // Phenotype % cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Lipodystrophy Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Reduced subcutaneous adipose tissue Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Thin skin. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Recurrent fractures Premature skin wrinkling Round face Osteopenia Microcephaly Skeletal muscle atrophy Bruising susceptibility Generalized hirsutism Wormian bones Infertility Failure to thrive Telangiectasia of the skin Depressivity Abnormality of the dentition Micrognathia Joint hyperflexibility Alopecia Visual impairment Visual loss Insulin resistance Cardiomyopathy Hypertension Lipoatrophy Global developmental delay

Rare Symptoms - Less than 30% cases


Macrocephaly Low-set ears Intrauterine growth retardation Aseptic necrosis Strabismus Bipolar affective disorder Generalized hypotonia Intellectual disability Adrenal hyperplasia Pituitary adenoma Onychomycosis Metrorrhagia Obesity Mental deterioration Hirsutism Hyperlipidemia Increased body weight Muscular hypotonia Frontal bossing Triangular face Generalized hyperpigmentation Recurrent skin infections Abdominal pain Osteoporosis Headache Immunodeficiency Fatigue Sleep disturbance Hyperglycemia Psychosis Nephrolithiasis Venous thrombosis Insulin-resistant diabetes mellitus Hernia Spontaneous abortion Hypokalemia Congenital cataract Hip dislocation Corneal opacity Premature ovarian insufficiency Acne Menorrhagia Truncal obesity Prominent forehead Inguinal hernia Hearing impairment Anxiety Glaucoma Aplasia/Hypoplasia of the skin Midface retrusion Congestive heart failure Small for gestational age Myopia Muscle weakness Large fontanelles Neoplasm Abnormal facial shape Excessive wrinkled skin Prematurely aged appearance Nystagmus Dermal atrophy Lethargy Scoliosis Convex nasal ridge Abnormality of the skin Skeletal dysplasia Joint hypermobility Lens luxation Bifid ureter Occipital meningocele Peripapillary atrophy Exudative retinal detachment Cerebellar malformation Abnormal vitreous humor morphology Phthisis bulbi Band keratopathy Lymphangioma Macular hypoplasia Vitreoretinopathy Calvarial skull defect Hypertelorism Total anomalous pulmonary venous return Large forehead Aplasia cutis congenita of scalp Anomalous pulmonary venous return Cephalocele Dental malocclusion Sensorineural hearing impairment Short chin Underdeveloped nasal alae Microdontia Bilateral sensorineural hearing impairment Abnormality of the face Decreased body weight Delayed eruption of teeth Downturned corners of mouth Congenital hip dislocation Nephrocalcinosis Short palm Hypotrichosis Neurological speech impairment Abnormality of dental enamel Delayed speech and language development Telecanthus Joint laxity Deeply set eye Macrotia Weight loss Severe short stature Delayed skeletal maturation Abnormal heart morphology Clinodactyly Malar flattening Hypodontia Wide nasal bridge Brachydactyly Microcornea Abnormal pupil morphology Opacification of the corneal stroma Maternal diabetes Advanced eruption of teeth Decreased HDL cholesterol concentration Xanthomatosis Angina pectoris Prominent superficial veins Peripheral arterial stenosis Osteolytic defects of the phalanges of the hand Abnormality of lipid metabolism Acute pancreatitis Short clavicles Hyperuricemia Secondary amenorrhea Glomerulopathy Cellulitis Coronary artery atherosclerosis Skeletal muscle hypertrophy Hyperlipoproteinemia Abnormality of the menstrual cycle Polycystic ovaries Adipose tissue loss Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Osteopoikilosis Generalized lipodystrophy Increased intraabdominal fat Abnormality of skeletal muscle fiber size Increased adipose tissue around the neck Eclampsia Congenital generalized lipodystrophy Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Absence of subcutaneous fat Hyperinsulinemia Cranial nerve paralysis Prominent supraorbital ridges Increased intraocular pressure Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Dimple chin Acute lymphoblastic leukemia Hypoplasia of the iris Hypoplastic facial bones Posterior embryotoxon Megalocornea Poor appetite Abnormality of the immune system Congenital glaucoma Glucose intolerance Radial deviation of finger Birth length less than 3rd percentile Abnormality of the zygomatic bone Atherosclerosis Thin vermilion border Acanthosis nigricans Pancreatitis Abnormality of the nail Myocardial infarction Hypertriglyceridemia Epidermal acanthosis Hepatic steatosis Narrow chest Hepatomegaly Papule Hypertrophic cardiomyopathy Myalgia High forehead Pectus excavatum Dilatation Splenomegaly Abnormality of the skeletal system Meningocele Neoplasm of the endocrine system Aplasia cutis congenita Proptosis Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Metaphyseal widening Tibial bowing Nonimmune hydrops fetalis Pulmonary insufficiency Multiple prenatal fractures Broad long bones Abnormality of calvarial morphology Beaded ribs Crumpled long bones Absent ossification of calvaria Flexion contracture High palate Arthralgia Bowing of the long bones Short distal phalanx of finger Limitation of joint mobility Hyperpigmentation of the skin Osteolysis Abnormality of the musculature Absent eyelashes Abnormal eyebrow morphology Progeroid facial appearance Lack of skin elasticity Breast aplasia Osteolytic defects of the distal phalanges of the hand Aplasia/Hypoplasia of the clavicles Acroosteolysis of distal phalanges (feet) Growth delay Disproportionate short-limb short stature Blue sclerae Talipes equinovarus Limb-girdle muscle weakness Small hand Short foot Fine hair Skin ulcer Irregular hyperpigmentation Cigarette-paper scars Proximal muscle weakness Limb muscle weakness Sarcoma Bowing of the legs Osteomyelitis Premature graying of hair Pathologic fracture Soft skin Osteosarcoma Coarctation of aorta Fractures of the long bones Limb-girdle muscle atrophy Fibrosarcoma Presenile cataracts Metaphyseal striations Histiocytoma Patchy osteosclerosis Stenosis of the medullary cavity of the long bones Diaphyseal cortical sclerosis Osteomyelitis leading to amputation due to slow healing fractures Respiratory insufficiency Pneumonia Platyspondyly Premature birth Feeding difficulties Autism Occipital encephalocele Vesicoureteral reflux Epicanthus Ventriculomegaly Hydrocephalus Blindness Cerebellar atrophy Cerebral atrophy Patent ductus arteriosus Retrognathia Nyctalopia Leukemia Retinal degeneration Polymicrogyria Bulbous nose Retinal detachment Progressive visual loss Motor delay High myopia Encephalocele Pachygyria Abnormality of the hair Narrow face Horizontal nystagmus Macular degeneration Corneal dystrophy Pyloric stenosis Ectopia lentis Dextrocardia Cortical dysplasia Chorioretinal atrophy Absent septum pellucidum Depressed nasal bridge Ataxia Postnatal growth retardation Edema Protruding ear Autistic behavior Broad forehead Oligohydramnios Aortic regurgitation Cutis laxa Adducted thumb Unilateral renal agenesis Brisk reflexes Delayed cranial suture closure Spinal canal stenosis Calcaneovalgus deformity Dermal translucency Small foramen magnum Kyphosis Seizures Hypotension Memory impairment Agitation Orthostatic hypotension Striae distensae Subarachnoid hemorrhage Increased circulating cortisol level Abdominal obesity Decreased circulating ACTH level Mood changes Moon facies Dorsocervical fat pad Macronodular adrenal hyperplasia Primary hypercortisolism Increased intramuscular fat



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Myalgia, related diseases and genetic alterations Arthritis and Migraine, related diseases and genetic alterations Hyperreflexia and Short palm, related diseases and genetic alterations Failure to thrive and Pneumonia, related diseases and genetic alterations Muscle weakness and Hodgkin lymphoma, related diseases and genetic alterations

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