Cataract, and Epidermal acanthosis

Diseases related with Cataract and Epidermal acanthosis

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


Top matches:

Medium match NEVUS COMEDONICUS SYNDROME


Nevus comedonicus (NC) is a rare type of epidermal nevus with predilection for the face and neck area. The condition develops within the first decade of life in most patients. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern; the distribution of lesions may be unilateral, bilateral, linear, interrupted, segmental, or along the lines of Blaschko. NC may be nonpyogenic with an acne-like appearance or associated with the formation of cysts, papules, pustules, and abscesses. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers (summary by Tchernev et al., 2013).

Related symptoms:

  • Seizures
  • Microcephaly
  • Scoliosis
  • Cataract
  • Alopecia


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEVUS COMEDONICUS SYNDROME

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

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Other less relevant matches:

Low match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Low 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

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Low match ICHTHYOSIS, X-LINKED; XLI


X-linked ichthyosis is clinically characterized by widespread, dark brown, polygonal scales and generalized dryness. Cutaneous manifestations are present soon after birth and usually do not improve with age. The histopathology of XLI typically shows compact hyperkeratosis and slight acanthosis with a normal granular layer (summary by Takeichi and Akiyama, 2016).X-linked ichthyosis is fundamentally the same disorder as placental steroid sulfatase deficiency, which is often first noted in the pregnant mother of affected males by decreased estrogen or delayed progression of parturition (Alperin and Shapiro, 1997). This is thus an example of affinity ('lumping') of phenotypes thought previously to be separate, the opposite of genetic heterogeneity.Schnyder (1970) gave a useful classification of the inherited ichthyoses.Hernandez-Martin et al. (1999) provided a comprehensive review of X-linked ichthyosis. They pointed out that among all genetic disorders X-linked ichthyosis shows one of the highest ratios of chromosomal deletions; complete deletion has been found in up to 90% of patients.Takeichi and Akiyama (2016) reviewed inherited nonsyndromic forms of ichthyosis.

ICHTHYOSIS, X-LINKED; XLI Is also known as ssdd|placental steroid sulfatase deficiency|sts deficiency|steroid sulfatase deficiency|steroid sulfatase deficiency disease

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Abnormality of metabolism/homeostasis
  • Hypogonadism
  • Hyperkeratosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ICHTHYOSIS, X-LINKED; XLI

Top 5 symptoms//phenotypes associated to Cataract and Epidermal acanthosis

Symptoms // Phenotype % cases
Acanthosis nigricans Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases
Nystagmus Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Epidermal acanthosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Insulin resistance Lipodystrophy Strabismus Generalized hirsutism Neoplasm Hearing impairment Hypertriglyceridemia Hyperlipidemia Thickened skin Round face Cardiomyopathy Alopecia Insulin-resistant diabetes mellitus Abnormality of the nail Splenomegaly Sparse hair Postnatal growth retardation Hypertension Ataxia Micrognathia Obesity Retinopathy Atherosclerosis Loss of subcutaneous adipose tissue in limbs Growth delay Pigmentary retinopathy Hyperinsulinemia Hyperglycemia Abdominal pain Recurrent infections Pancreatitis Hypergonadotropic hypogonadism Immunodeficiency Glucose intolerance Seizures Hypogonadism Goiter Pain Microcephaly Hyperostosis Intellectual disability Abnormality of the hair Nevus Weight loss Scoliosis Scarring

Rare Symptoms - Less than 30% cases


High forehead Glomerulopathy Prominent superficial veins Abnormality of the skeletal system Myopathy Visual loss Osteolytic defects of the phalanges of the hand Abnormality of lipid metabolism Congestive heart failure Constipation Kyphoscoliosis Short clavicles Hyperuricemia Carious teeth Reduced subcutaneous adipose tissue Myalgia Dilatation Abdominal distention Abnormality of retinal pigmentation Acute pancreatitis Sinusitis Polycystic ovaries Diabetes insipidus Thin skin Pericardial effusion Hepatic steatosis Hirsutism Infertility Decreased HDL cholesterol concentration Hematemesis Kyphosis Hypermetropia Proptosis Hypothyroidism Deeply set eye Rigidity Abnormality of the dentition Dilated cardiomyopathy Long face Joint stiffness Convex nasal ridge Decreased testicular size Lymphopenia Multinodular goiter Truncal obesity High pitched voice Abnormality of the kidney Clinodactyly Optic atrophy Global developmental delay Generalized lipodystrophy Bilateral cryptorchidism Increased adipose tissue around the neck Increased body weight Increased facial adipose tissue Hyperpigmentation of the skin Abnormality of skin pigmentation Peripheral neuropathy Delayed puberty Sensorineural hearing impairment Cryptorchidism Cognitive impairment Hypotrichosis Delayed speech and language development Hepatomegaly Abnormal facial shape Pulmonary fibrosis Acne Anorexia Visual impairment Palmoplantar hyperkeratosis Abnormal lung morphology Hamartoma Gastrointestinal hemorrhage Glaucoma Hyperhidrosis Abnormality of cardiovascular system morphology Ichthyosis Hypermelanotic macule Abnormality of dental enamel Abnormal vertebral morphology Dysmetria Photophobia Dyspnea Irregular hyperpigmentation Absence of subcutaneous fat Renal insufficiency Generalized hyperkeratosis Blindness Fatigue Hypercholesterolemia Myopia Dry skin Epidermal nevus Babinski sign Melanocytic nevus Rod-cone dystrophy Cutaneous photosensitivity Papule Finger syndactyly Corneal opacity Irritability Polydactyly Vitreous haze Myoclonus Recurrent respiratory infections Localized hirsutism Pneumonia Cough Hyporeflexia Respiratory failure Gastroesophageal reflux Autism Nyctalopia Abnormality of the liver Pes planus Hepatosplenomegaly Jaundice Autistic behavior Pallor Elevated hepatic transaminase Conductive hearing impairment Proteinuria Respiratory tract infection Stage 5 chronic kidney disease Generalized tonic-clonic seizures Vesicoureteral reflux Recurrent otitis media Pulmonary arterial hypertension Type II diabetes mellitus Cardiomegaly Optic disc pallor Hepatitis Cyanosis Precocious puberty in females Specific learning disability Progressive visual loss Otitis media Growth hormone deficiency Urinary incontinence Asthma Ophthalmoplegia EEG with occipital slowing Ascites Sleep disturbance Abnormality of prothrombin Abnormality of renal calyx morphology Nephropathy Retinal dystrophy Hepatic failure Tachycardia Cirrhosis Nausea Lymphadenopathy Retinal degeneration Pulmonic stenosis Patent ductus arteriosus Respiratory insufficiency Abnormality of the femoral head Long penis Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Congenital ichthyosiform erythroderma Thick nasal alae Elevated circulating follicle stimulating hormone level Visceral angiomatosis Thin bony cortex Testicular neoplasm Varicose veins Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Meningioma Deep venous thrombosis Arteriovenous malformation Myofibrillar myopathy Lower limb asymmetry Abnormality of the neck Hemihypertrophy Anisocytosis Arterial thrombosis Buphthalmos Upper limb asymmetry Lymphangioma Abnormality of metabolism/homeostasis Recurrent urinary tract infections Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Failure to thrive Feeding difficulties Motor delay Short neck Central heterochromia Respiratory distress Vomiting Behavioral abnormality Dystonia Depressivity Encephalopathy Connective tissue nevi Neoplasm of the thymus Metatarsus valgus Facial hyperostosis Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal External genital hypoplasia Anosmia Abnormal subcutaneous fat tissue distribution Nevus sebaceous Opacification of the corneal stroma Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Involuntary movements Hypogonadotrophic hypogonadism Left ventricular hypertrophy Male hypogonadism Squared iliac bones Endocardial fibroelastosis Urethral obstruction Abnormal renal morphology Menstrual irregularities Ovarian cyst High-frequency hearing impairment Restrictive cardiomyopathy Esophageal varix Abnormality of the pituitary gland Chronic obstructive pulmonary disease Hypoplastic male external genitalia Chronic fatigue Myocardial fibrosis Hepatic necrosis Renovascular hypertension Right ventricular hypertrophy Ketoacidosis ST segment depression Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Facial hirsutism Oligospermia Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Tubular atrophy Chronic hepatic failure Myocarditis Retinal pigment epithelial atrophy Disinhibition Posterior subcapsular cataract Increased total bilirubin Achromatopsia Urethral stenosis Hepatic encephalopathy Abnormality of female external genitalia Bull's eye maculopathy Vertical nystagmus Frontal balding Pyelonephritis Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Chills Poor fine motor coordination Albuminuria Tubulointerstitial fibrosis Abnormal muscle tone Female hypogonadism Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Impaired temperature sensation Urethral stricture Urinary retention Abnormal chorioretinal morphology Epigastric pain Elevated C-reactive protein level Abnormality of dental color Lumbar scoliosis Arteriosclerosis Broad foot Oligomenorrhea Chronic diarrhea Tachypnea Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Polydipsia Dilatation of the bladder Portal hypertension Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Cone/cone-rod dystrophy Unilateral breast hypoplasia Thickened ears Recurrent cystitis Decreased liver function Abnormal retinal artery morphology Hepatic fibrosis Gynecomastia Widely-spaced incisors Short toe Recurrent pneumonia Glue ear Horizontal nystagmus Abnormality of the urethra Nephrocalcinosis Absence seizures Accelerated skeletal maturation Macular degeneration Polyuria Emphysema Poor coordination Alopecia of scalp Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Retinal atrophy Peripheral visual field loss Nonproductive cough Exudative retinopathy Pericarditis Increased circulating androgen level Papilledema High-frequency sensorineural hearing impairment Childhood-onset truncal obesity Multifocal atrial tachycardia Hyperventilation Thoracic scoliosis Subcapsular cataract Hydroureter Polyphagia Urinary urgency Abnormal retinal morphology Chorioretinal atrophy Granular macular appearance Receptive language delay Hyperostosis frontalis interna Chronic active hepatitis Increased number of teeth Short finger Abnormal adipose tissue morphology Agenesis of permanent teeth Progressive sensorineural hearing impairment Glycosuria Bronchitis Capillary hemangioma Breast aplasia Exostoses Maternal diabetes Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Eclampsia Congenital generalized lipodystrophy Dysmenorrhea Abnormality of the menstrual cycle Hyperlipoproteinemia Advanced eruption of teeth Xanthomatosis Angina pectoris Peripheral arterial stenosis Secondary amenorrhea Loss of truncal subcutaneous adipose tissue Aplasia/Hypoplasia of the skin Lipoatrophy Cellulitis Coronary artery atherosclerosis Skeletal muscle hypertrophy Cranial nerve paralysis Spontaneous abortion Myocardial infarction Thin vermilion border Narrow chest Hypertrophic cardiomyopathy Pectus excavatum Skeletal muscle atrophy Freckles in sun-exposed areas Sunken cheeks Enlarged peripheral nerve Partial albinism Severe short stature Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Sensory neuropathy Falls Synophrys Small for gestational age Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Abnormal pyramidal sign Mandibular prognathia Micropenis Pes cavus Myelin tomacula Inguinal hernia Hernia Thrombocytopenia Midface retrusion Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Gait disturbance Tremor Intrauterine growth retardation Dysarthria Anemia Increased intramuscular fat Labial pseudohypertrophy Menometrorrhagia Squamous cell carcinoma of the skin Limb undergrowth Abnormal blistering of the skin Distal sensory impairment Paresthesia Lower limb muscle weakness Congenital cataract Gait ataxia Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Hypergranulosis Abnormality of the testis Macule Scaling skin Neoplasm of the skin Hypertrichosis Palmoplantar keratoderma Abnormality of the face Tapered finger Pruritus Skin rash Protruding ear Erythema Brachydactyly Comedo Nevus flammeus Pustule Preaxial polydactyly Spina bifida occulta Spina bifida Abnormality of the foot Toe syndactyly Hypotension Clonus Impaired platelet aggregation Basal cell carcinoma Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Hematochezia Ocular albinism Abnormality of visual evoked potentials Gingival bleeding Severe vision loss Iris hypopigmentation Hypopigmentation of hair Freckling Colitis Prolonged bleeding time Restrictive ventilatory defect Albinism Brisk reflexes Inflammation of the large intestine Melanoma Amblyopia Long eyelashes Epistaxis Abnormal bleeding Hypopigmentation of the skin Neutropenia Bruising susceptibility Astigmatism Malabsorption Decreased adipose tissue around neck Lack of facial subcutaneous fat Orthostatic hypotension Renal agenesis Bradykinesia Lipoma Low-set ears Hip dislocation Craniosynostosis Intellectual disability, moderate Carcinoma Skeletal dysplasia Macrotia Clinodactyly of the 5th finger Headache Syndactyly Anteverted nares Downslanted palpebral fissures Macrocephaly Fever Depressed nasal bridge Ptosis Facial asymmetry Hypertelorism Stiff elbow Foamy urine Progressive clavicular acroosteolysis Abnormality of the fingertips Acroosteolysis of distal phalanges (feet) Foot pain Thin clavicles Aplasia/Hypoplasia of the clavicles Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Wide cranial sutures Dolichocephaly Confusion Broad distal phalanx of finger Growth abnormality Neoplasm of the lung Abnormal lung lobation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Ovarian neoplasm Multiple cafe-au-lait spots Multiple lipomas Neurofibromas Disproportionate tall stature Hallux valgus Decreased muscle mass Chorioretinal coloboma Cachexia Reduced number of teeth Polymicrogyria Abnormality of the metacarpal bones Hemangioma Venous thrombosis Lymphedema Subcutaneous nodule Heterotopia Abnormal form of the vertebral bodies Open mouth High myopia Overgrowth Decreased antibody level in blood Gliosis Sudden cardiac death Renal cyst Narrow nasal ridge Hypoplasia of teeth Sloping forehead Cerebellar vermis atrophy Short nose Edema High palate Flexion contracture Muscle weakness Generalized hypotonia Long neck Gastrointestinal stroma tumor Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Long nose Osteoporosis Cortical gyral simplification Ectopic kidney Sensory axonal neuropathy Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Leukopenia Short chin Bone marrow hypocellularity Broad-based gait Renal hypoplasia Apraxia Hypotelorism Hypospadias Narrow mouth Calcinosis Osteolysis Vertebral compression fractures Progeroid facial appearance Down-sloping shoulders Narrow nose Premature loss of teeth Arthropathy Prematurely aged appearance Spinal rigidity Delayed cranial suture closure Focal segmental glomerulosclerosis Absent eyebrow Congenital muscular dystrophy Glomerulosclerosis Dermal atrophy Wormian bones Retrognathia Dental crowding Large fontanelles Sparse scalp hair Nephrotic syndrome Abnormality of the cardiovascular system Abnormality of the skin Dental malocclusion Full cheeks Sepsis Short distal phalanx of finger Nail dystrophy Muscular dystrophy Paralysis Proximal muscle weakness Opacification of the corneal epithelium



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