Cataract, and Delayed skeletal maturation

Diseases related with Cataract and Delayed skeletal maturation

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


Top matches:

Low match MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME


SC4MOL deficiency represents an inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected patients. The associated features of immune dysregulation, skin disease, and growth delay can be at least partially corrected with cholesterol and statin supplements (He et al., 2014).

MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME Is also known as smo deficiency|sterol-c4-methyl oxidase deficiency|sc4mol deficiency

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALY-CONGENITAL CATARACT-PSORIASIFORM DERMATITIS SYNDROME

Low match PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME


Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years. The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years. He underwent surgery for severe bilateral posterior subcapsular cataracts at age 14. Examination at age 15 showed short stature and low weight, with premature graying of scalp hair, small frontotemporal diameter, small deep-set eyes, bulbous nose with high nasal bridge, small upper lip, and micrognathia. In addition, he had thoracic kyphoscoliosis, sloping shoulders, mild pectus excavatum, moderate bilateral contractures of both elbows, bilateral clinodactyly, and pes planus. At age 17, he developed abdominal pain, and ultrasonography revealed a liver mass; biopsy confirmed hepatocellular carcinoma. Because of the advanced stage, no treatment was possible, and he died 2 months later. Although his parents were not known to be consanguineous, they originated from the same small Moroccan village.Lessel et al. (2014) studied 2 brothers from a nonconsanguineous Australian family of European ancestry who exhibited low body weight, micrognathia, triangular face, muscular atrophy, lipodystrophy, bilateral simian creases, delayed bone age, and mild joint restrictions in the fingers and elbows. In addition, both brothers developed early-onset hepatocellular carcinoma, at ages 16 and 14 years, respectively. The older brother died at age 18 from complications of acute fulminant hepatic failure. Analysis of patient tumor biopsies showed strong focal accumulations of cancer biomarkers as well as a high proliferative index compared to healthy liver or to cells from idiopathic hepatocellular carcinoma.

PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME Is also known as ruijs-aalfs syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Neoplasm
  • Micrognathia
  • Pain


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGEROID FEATURES-HEPATOCELLULAR CARCINOMA PREDISPOSITION SYNDROME

Low match SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A


Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

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Other less relevant matches:

Low match OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE


OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE Is also known as odod, autosomal recessive|oculodentoosseous dysplasia, autosomal recessive|oddd, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cataract


SOURCES: OMIM MESH MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

Low match AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME


Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014).See KCS1 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME Is also known as kenny syndrome|dwarfism, cortical thickening of tubular bones, and transient hypocalcemia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT KENNY-CAFFEY SYNDROME

Low match OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME


Harel-Yoon syndrome is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Other more variable features such as optic atrophy may also occur. Laboratory studies in some patients show evidence of mitochondrial dysfunction (summary by Harel et al., 2016).

OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME Is also known as harel-yoon syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OPTIC ATROPHY-PERIPHERAL NEUROPATHY-DEVELOPMENTAL DELAY SYNDROME

Low match SPONDYLOCARPOTARSAL SYNOSTOSIS


Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.

SPONDYLOCARPOTARSAL SYNOSTOSIS Is also known as synspondylism, congenital|synspondylism|vertebral fusion with carpal coalition|scoliosis, congenital, with unilateral unsegmented bar|spondylocarpotarsal syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOCARPOTARSAL SYNOSTOSIS

Low match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Low 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

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Top 5 symptoms//phenotypes associated to Cataract and Delayed skeletal maturation

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Delayed skeletal maturation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Clinodactyly Frontal bossing Seizures Abnormal facial shape Triangular face Deeply set eye Micrognathia Hernia Hypertelorism Ataxia Flexion contracture Severe short stature Underdeveloped nasal alae Growth delay Congenital cataract Intellectual disability Scoliosis Sensorineural hearing impairment Skeletal muscle atrophy Microcephaly Delayed speech and language development Low-set ears

Rare Symptoms - Less than 30% cases


Telecanthus Joint laxity Delayed eruption of teeth Microphthalmia Microcornea Abnormality of the dentition Dental malocclusion Downslanted palpebral fissures Abnormality of dental enamel Basal ganglia calcification Muscular hypotonia Brachydactyly Anemia Generalized hypotonia Pectus carinatum Short nose Cerebellar atrophy Splenomegaly Aciduria Optic atrophy Hearing impairment Abnormality of pelvic girdle bone morphology Intrauterine growth retardation Neurological speech impairment Small for gestational age Abnormality of the liver Prominent forehead Wide nasal bridge Edema Macrocephaly Corneal opacity Large fontanelles Pain Arthralgia Gait disturbance Kyphosis Pes planus Peripheral neuropathy Delayed puberty Abnormality of the skeletal system Vomiting Lipodystrophy Decreased body weight Spasticity Muscle weakness Kyphoscoliosis Abdominal pain Skeletal dysplasia Hyperkeratosis EEG abnormality Retinopathy Organic aciduria Abnormality of movement Progressive visual loss Thick lower lip vermilion Cholestatic liver disease Coarse facial features Low-set, posteriorly rotated ears Abnormal form of the vertebral bodies Midface retrusion Weight loss Glaucoma Diabetes mellitus Alopecia Inguinal hernia Abnormal heart morphology Depressivity Malar flattening Aminoaciduria Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Cherry red spot of the macula Vascular skin abnormality Dysostosis multiplex Short thorax Decreased nerve conduction velocity Slurred speech Normocytic anemia Myoclonus Tarsal synostosis Large forehead Disproportionate short-trunk short stature Carpal synostosis Fluctuating hepatomegaly Hypoplasia of the odontoid process Disproportionate short stature Mixed hearing impairment Morbilliform rash Fluctuating splenomegaly Restrictive ventilatory defect Mesomelia Epiphyseal dysplasia Preauricular skin tag Abnormal vertebral morphology Broad face Delayed ossification of carpal bones Agenesis of cerebellar vermis Therapeutic abortion Extramedullary hematopoiesis Hip dislocation Hypoplastic anemia Tremor Glutathione synthetase deficiency Visual impairment C2-C3 subluxation Platybasia Short nasal septum Chronic leukemia Bowed humerus Cervical spine instability Capitate-hamate fusion Block vertebrae Basilar impression Macrotia Severe failure to thrive Hypotrichosis Dimple chin Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Leukemia Excessive wrinkled skin Dolichocephaly Birth length less than 3rd percentile Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Hypoplasia of the iris Posterior embryotoxon Insulin-resistant diabetes mellitus Megalocornea Enlarged epiphyses Hypoplastic facial bones Lymphadenopathy Elevated serum creatine phosphokinase Elevated hepatic transaminase Hypoglycemia Hepatosplenomegaly Acidosis Cerebral cortical atrophy Posteriorly rotated ears Obesity Abnormality of the zygomatic bone Thrombocytopenia Skin rash Cerebral atrophy Diarrhea Myopathy Fever Hepatomegaly Malabsorption Poor appetite Joint hyperflexibility Nevus Microdontia Abnormality of the skin Hypodontia Downturned corners of mouth Metabolic acidosis Progressive cerebellar ataxia Blue sclerae Thin skin Clumsiness Leukocytosis Petechiae Short palm Abnormality of the nervous system Nuclear cataract Joint hypermobility Bilateral sensorineural hearing impairment Abnormality of the face Abnormality of the immune system Hyperglycemia Lipoatrophy Reduced subcutaneous adipose tissue Hypoplasia of dental enamel Congenital glaucoma Lactic acidosis Glucose intolerance Radial deviation of finger Insulin resistance Prominent supraorbital ridges Retinal dystrophy Opacification of the corneal stroma Short chin Nephrocalcinosis Congenital hip dislocation Increased body weight Abnormality of retinal pigmentation Absent speech Recurrent otitis media Motor polyneuropathy Epicanthus Dysfunction of lateral corticospinal tracts Chorioretinal dystrophy Shallow acetabular fossae Abnormal upper motor neuron morphology Carpal bone hypoplasia Short 5th finger Syndactyly Hiatus hernia Progressive spasticity Generalized amyotrophy Urinary urgency Impaired vibratory sensation Spastic paraparesis Long philtrum Brachycephaly Lower limb spasticity Sparse scalp hair Narrow nose Long nose Hyperostosis Abnormality of dental morphology Sparse eyelashes Dental crowding Fine hair Narrow mouth Short palpebral fissure Overgrowth Hypoplasia of the maxilla Short foot Small hand Thin vermilion border Toe syndactyly Paraparesis Specific learning disability Mild global developmental delay Decreased LDL cholesterol concentration Bulbous nose Hepatic failure Prominent nasal bridge Carcinoma Pectus excavatum Neoplasm Hypocholesterolemia Elbow flexion contracture Immune dysregulation Blepharitis Erythroderma Psoriasiform dermatitis Inflammatory abnormality of the skin Ichthyosis Intellectual disability, mild Single transverse palmar crease Premature graying of hair Urinary incontinence Babinski sign Abnormal cerebellum morphology Lower limb muscle weakness Paraplegia Spastic paraplegia Gastroesophageal reflux Pes cavus Dysarthria Subcapsular cataract Hyperreflexia Fulminant hepatic failure Thoracic kyphoscoliosis Down-sloping shoulders Thoracic kyphosis Posterior subcapsular cataract Hepatocellular carcinoma Spinal cord compression Large earlobe Abnormality of the ribs Gait ataxia Peripheral axonal neuropathy Abnormality of the foot Muscular hypotonia of the trunk Hypertrophic cardiomyopathy High forehead Mandibular prognathia Upslanted palpebral fissure Distal amyotrophy Cardiomyopathy Feeding difficulties Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Long face Inability to walk Thin long bone diaphyses Clinodactyly of the 5th finger Otitis media Round face Broad nasal tip Renal cyst Hyperlordosis Abnormality of the kidney Short neck Increased serum lactate Talipes equinovarus Cleft palate Abnormality of mitochondrial metabolism Optic nerve hypoplasia Absence seizures Hip dysplasia Esotropia Stenosis of the medullary cavity of the long bones Cortical thickening of long bone diaphyses Hypoplasia of teeth Postnatal growth retardation High myopia Decreased testicular size Neutropenia Infertility Carious teeth Hypermetropia 2-4 toe cutaneous syndactyly Increased bone mineral density 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Macrodontia of permanent maxillary central incisor Persistent pupillary membrane Broad long bones Cranial hyperostosis Cutaneous syndactyly of toes Small nail Hypocalcemia Postnatal macrocephaly Delayed closure of the anterior fontanelle Congenital hypoparathyroidism Thickened cortex of long bones Hypocalcemic tetany Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Tetany High pitched voice Decreased skull ossification Hyperphosphatemia Hypoparathyroidism Papilledema Proportionate short stature High hypermetropia Delayed cranial suture closure Normocytic hypoplastic anemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Cerebellar vermis hypoplasia, related diseases and genetic alterations Visual impairment and Myopia, related diseases and genetic alterations Skeletal muscle atrophy and Congenital cataract, related diseases and genetic alterations Immunodeficiency and Hypodontia, related diseases and genetic alterations Cognitive impairment and Ambiguous genitalia, related diseases and genetic alterations

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