Cataract, and Severe short stature

Diseases related with Cataract and Severe short stature

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


Top matches:

Medium match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2


Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Medium match XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB


For a general discussion of xeroderma pigmentosum, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).Cleaver (1990) provided a review of the causes of xeroderma pigmentosum.

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB Is also known as xp, group b|xpbc

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B; XPB

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

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Other less relevant matches:

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life. RCDP1 (OMIM ) is the most frequent form of RCDP (summary by Wanders and Waterham, 2005). Whereas RCDP1 is a peroxisomal biogenesis disorder (PBD), RCDP2 is classified as a single peroxisome enzyme deficiency (Waterham and Ebberink, 2012).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 Is also known as chondrodysplasia punctata, rhizomelic, due to dihydroxyacetonephosphate acyltransferase deficiency|gnpat deficiency|dihydroxyacetonephosphate acyltransferase deficiency|peroxisomal dihydroxyacetonephosphate acyltransferase deficiency|dhapat deficiency|gly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2

Medium match XFE PROGEROID SYNDROME; XFEPS


XFE PROGEROID SYNDROME; XFEPS Is also known as xpf-ercc1 progeroid syndrome

Related symptoms:

  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Neoplasm


SOURCES: MESH OMIM MENDELIAN

More info about XFE PROGEROID SYNDROME; XFEPS

Medium match RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5


Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. Biochemically, plasmalogen synthesis and phytanic acid alpha-oxidation are defective. Most patients die in the first decade of life (summary by Wanders and Waterham, 2005).For a discussion of genetic heterogeneity of rhizomelic chondrodysplasia punctata, see {215100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 5

Medium 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

Medium match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

Medium match MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME


Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Medium 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

Top 5 symptoms//phenotypes associated to Cataract and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Optic atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Seizures Microphthalmia Flexion contracture Scoliosis Growth delay Micrognathia Congenital cataract Failure to thrive Wide nasal bridge Epicanthus Intellectual disability, severe Retinopathy Spasticity

Rare Symptoms - Less than 30% cases


Muscular hypotonia High palate Proteinuria Anteverted nares Congenital contracture High forehead Hyperlordosis Abnormality of pelvic girdle bone morphology Depressed nasal bridge Talipes equinovarus Anemia Cleft palate Abnormality of retinal pigmentation Hypoplasia of the odontoid process Epiphyseal dysplasia Abnormality of the ribs Clinodactyly of the 5th finger Brachydactyly Delayed skeletal maturation Carious teeth Edema Myopia Hypertelorism High pitched voice Hypoplasia of dental enamel Dry skin Osteopenia Prominent forehead Basal ganglia calcification Sloping forehead Visual impairment Intrauterine growth retardation Ventriculomegaly Cerebellar atrophy Sensorineural hearing impairment Ataxia Cutaneous photosensitivity Severe platyspondyly Pseudoarthrosis Caudal appendage Hepatomegaly Abnormality of the intervertebral disk Long thorax Cervical instability Rough bone trabeculation Spondylometaphyseal dysplasia Enlarged joints Flared iliac wings Abnormal cortical bone morphology Thoracic kyphoscoliosis Flared femoral metaphysis Abnormal enchondral ossification Dumbbell-shaped metaphyses Blindness Atrial septal defect Ptosis Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Halberd-shaped pelvis Long coccyx Anisospondyly Abnormal metaphyseal vascular invasion Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Fetal akinesia sequence Abnormal joint morphology Aplasia/Hypoplasia of the lungs Respiratory insufficiency Kyphoscoliosis Respiratory failure Cerebral atrophy Midface retrusion Kyphosis Hydrocephalus Cerebellar hypoplasia Low-set, posteriorly rotated ears Proptosis Abnormality of the medullary cavity of the long bones Abnormal circulating follicle-stimulating hormone level Transient hypophosphatemia Retinal calcification Calvarial osteosclerosis Stenosis of the medullary cavity of the long bones Skeletal dysplasia Joint stiffness Long philtrum Osteoarthritis Short finger Multiple joint contractures Akinesia Short ribs Abnormal form of the vertebral bodies Abnormality of the metaphysis Interphalangeal joint contracture of finger Camptodactyly of finger Limb undergrowth Peripheral axonal neuropathy Confusion Micromelia Narrow chest Arthrogryposis multiplex congenita Platyspondyly Hypertonia Glaucoma Visual loss Joint laxity Recurrent otitis media Otitis media Round face Broad nasal tip Renal cyst Abnormality of the kidney Pes planus Preauricular skin tag Clinodactyly Hernia Short nose Short neck Melanonychia Chorioretinal dysplasia Panniculitis Abnormal vertebral morphology Mesomelia Abnormal nasolacrimal system morphology Platybasia Short nasal septum Bowed humerus Cervical spine instability Capitate-hamate fusion Block vertebrae Basilar impression Delayed ossification of carpal bones Restrictive ventilatory defect Broad face Large forehead Disproportionate short-trunk short stature Carpal synostosis Disproportionate short stature Tarsal synostosis Mixed hearing impairment Erysipelas Chylothorax Upslanted palpebral fissure Retinal detachment Thickened skin Subcutaneous nodule Status epilepticus Specific learning disability Lymphoma Full cheeks Thick vermilion border Strabismus Retinal dystrophy Wide nose Leukemia Protruding ear Abnormality of the eye Rigidity Cortical thickening of long bone diaphyses Amblyopia Lymphedema Leukonychia Cellulitis Abnormality of the optic nerve Retinal dysplasia Abnormal toenail morphology Abnormal eyelid morphology Gangrene Abnormal eyelash morphology Underdeveloped supraorbital ridges Anophthalmia Skin ulcer Pleural effusion Scaling skin Abnormality of vision Venous thrombosis Pointed chin Muscle stiffness Abnormality of the hair Thin long bone diaphyses Hypocalcemic tetany Postnatal macrocephaly Mild proteinuria Chronic acidosis Galactose intolerance Impairment of galactose metabolism Hyperuricosuria Galactosuria Albuminuria Hypergalactosemia Squamous cell carcinoma of the skin Hypouricemia Generalized aminoaciduria Microalbuminuria Fasting hypoglycemia Hyperphosphaturia Ketonuria Generalized hypotonia Progeroid facial appearance Ketosis Large fontanelles Limb joint contracture Irregular vertebral endplates Epiphyseal stippling Short humerus Hypogonadism Rhizomelia Retinal degeneration Freckling Pigmentary retinopathy Recurrent infections Abnormality of the cardiovascular system Dermal atrophy Decreased nerve conduction velocity Feeding difficulties Basal cell carcinoma Renal tubular dysfunction Protuberant abdomen Stippled calcification proximal humeral epiphyses Abnormal CNS myelination Abdominal distention Metabolic acidosis Hepatic steatosis Nephropathy Malabsorption Cutaneous melanoma Hypoglycemia Aminoaciduria Hepatosplenomegaly Increased cellular sensitivity to UV light Acidosis Osteoporosis Constipation Obesity Vomiting Increased body weight Pancreatitis Poor appetite Bowing of the legs Renal tubular acidosis Hyperuricemia Osteomalacia Glycosuria Reduced subcutaneous adipose tissue Hypophosphatemia Polyuria Hyperlipidemia Hyperglycemia Rickets Polydipsia Hypercalciuria Elevated alkaline phosphatase Hypokalemia Hypercholesterolemia Calcific stippling Neoplasm Congenital hypoparathyroidism Microcornea Neutropenia Infertility Hypermetropia Small for gestational age Abnormality of the liver Postnatal growth retardation Prominent nose High myopia Macrocephaly Optic disc pallor Abnormal facial shape Optic nerve hypoplasia Sinus tachycardia Vertical nystagmus Decreased testicular size Small nail Thoracic scoliosis Tetany Thickened cortex of long bones Fever Hypocalcemic seizures Persistence of primary teeth Bilateral microphthalmos Delayed closure of the anterior fontanelle Decreased skull ossification Increased bone mineral density Hyperphosphatemia Hypoparathyroidism Papilledema Proportionate short stature High hypermetropia Delayed cranial suture closure Hypocalcemia Metaphyseal cupping Generalized amyotrophy Hyperreflexia Vertigo Prominent supraorbital ridges Cachexia Neoplasm of the skin Narrow face Macular atrophy Ascites Elevated hepatic transaminase Prematurely aged appearance Deeply set eye Weight loss Pneumonia Renal insufficiency Intellectual disability, mild Respiratory distress Hypertension Cortical gyral simplification Poor coordination Short femoral neck Sensory neuropathy Metaphyseal irregularity Coxa vara Decreased body weight Broad-based gait Peripheral demyelination Asthma Pes cavus Absence of subcutaneous fat Hyporeflexia Hypoplasia of the brainstem Abnormality of the skeletal system Peripheral neuropathy Muscle weakness Lack of subcutaneous fatty tissue Bird-like facies C2-C3 subluxation



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