Cataract, and Large fontanelles

Diseases related with Cataract and Large fontanelles

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


Top matches:

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Roscioli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7 Is also known as walker-warburg syndrome or muscle-eye-brain disease, ispd-related

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Cataract
  • Low-set ears
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7

Low match NEONATAL ADRENOLEUKODYSTROPHY


Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Low 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:

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 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

Low 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

Low match CRANIOLENTICULOSUTURAL DYSPLASIA


Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

Low match ALG8-CDG


ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

Low match DONNAI-BARROW SYNDROME


Donnai-Barrow syndrome (DBS) is a rare, often severe, multiple congenital malformation syndrome with typical facial dysmorphism, ocular findings, hearing loss, agenesis of the corpus callosum, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common.

DONNAI-BARROW SYNDROME Is also known as syndrome of ocular and facial anomalies, telecanthus and deafness|diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria|foar syndrome|facio-oculo-acoustico-renal syndrome|diaphragmatic her

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DONNAI-BARROW SYNDROME

Low match PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

Top 5 symptoms//phenotypes associated to Cataract and Large fontanelles

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Large fontanelles. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Macrocephaly Epicanthus High palate Hypertelorism Global developmental delay Anteverted nares Long philtrum Micrognathia Abnormality of the dentition Seizures Hearing impairment Wide anterior fontanel Abnormal facial shape Muscular hypotonia Wide nasal bridge Scoliosis High forehead Cryptorchidism

Rare Symptoms - Less than 30% cases


Depressed nasal bridge Pulmonary hypoplasia Retinal dystrophy Camptodactyly Esotropia Talipes equinovarus Decreased liver function Ventricular septal defect Intrauterine growth retardation Hepatomegaly Microcephaly Prominent supraorbital ridges Prominent forehead Midface retrusion Malar flattening Thin skin Hypoplasia of teeth Proptosis Long nose Osteopenia Epiphyseal stippling Delayed eruption of teeth Thin vermilion border Telecanthus Downslanted palpebral fissures Wormian bones Myopia Delayed speech and language development Hyperpigmentation of the skin Cleft palate Broad long bones Abnormality of pelvic girdle bone morphology Hypoplasia of the maxilla Flexion contracture Decreased fetal movement Partial agenesis of the corpus callosum Retinal detachment Areflexia Microphthalmia Heterotopia Sensorineural hearing impairment Polymicrogyria Respiratory insufficiency Optic atrophy Deeply set eye Hypothyroidism Narrow iliac wings High iliac wings Sutural cataract Posterior Y-sutural cataract Posterior wedging of vertebral bodies Punctate cataract Forehead hyperpigmentation Growth delay Anemia Hepatic failure Brachydactyly Patent ductus arteriosus Abnormal cardiac septum morphology Hydrocephalus Decreased skull ossification Hypoplasia of the corpus callosum Short neck Dyspnea Vomiting Diarrhea Thrombocytopenia Delayed closure of the anterior fontanelle Abnormality of metabolism/homeostasis Capillary hemangioma Narrow chest Facial palsy Retrognathia Glaucoma Cerebellar hypoplasia Gastroesophageal reflux Skeletal dysplasia Pes planus Thin upper lip vermilion Joint laxity Wide mouth Sparse hair Prominent nasal bridge Carious teeth Premature loss of teeth Pulmonic stenosis Joint hyperflexibility Smooth philtrum Abnormality of skin pigmentation Wide nose Bifid uvula Prominent nose Microdontia Hemangioma Coarse hair Elevated serum creatine phosphokinase Ascites Brittle hair Ventriculomegaly Lymphedema Cholestasis Round face Diaphragmatic eventration Macular hypoplasia Infra-orbital crease Low-molecular-weight proteinuria Non-acidotic proximal tubulopathy Splenomegaly Abnormal heart morphology Hepatosplenomegaly Jaundice Feeding difficulties in infancy Flat face Single transverse palmar crease Renal cyst Pigmentary retinopathy Short sternum Opacification of the corneal stroma Poor suck Cubitus valgus Clitoral hypertrophy Metatarsus adductus Palpebral edema Abnormality of the helix Generalized neonatal hypotonia Optic nerve dysplasia Macrogyria Renal cortical microcysts Brushfield spots Intrahepatic biliary dysgenesis Proximal tubulopathy Bicornuate uterus Acroosteolysis of distal phalanges (feet) Coloboma Abnormal intestine morphology Tachypnea Hypoalbuminemia Protein-losing enteropathy Abnormality of the renal tubule Primary hypothyroidism Abnormal isoelectric focusing of serum transferrin Short nose Hernia Agenesis of corpus callosum Posteriorly rotated ears Umbilical hernia Proteinuria Broad forehead Abnormality of the uterus Iris coloboma Broad nasal tip Intestinal malrotation Progressive visual loss Congenital diaphragmatic hernia High myopia Omphalocele Abnormal vertebral morphology Aminoaciduria Aplasia/Hypoplasia of the corpus callosum Epiphyseal dysplasia Severe sensorineural hearing impairment Hypoplasia of the iris Widow's peak Microtia Progeroid facial appearance Aplasia/Hypoplasia of the clavicles Abnormality of calvarial morphology Bowing of the long bones Agyria Disproportionate short-limb short stature Type II lissencephaly Increased susceptibility to fractures Metaphyseal widening Tibial bowing Nonimmune hydrops fetalis Pulmonary insufficiency Lens luxation Multiple prenatal fractures Peters anomaly Beaded ribs Blue sclerae Crumpled long bones Absent ossification of calvaria Corpus callosum atrophy Retinal dysplasia Gonadal dysgenesis Weak cry Hypoplasia of the brainstem Syndactyly Clinodactyly Delayed skeletal maturation Brachycephaly Narrow mouth Congenital muscular dystrophy Remnants of the hyaloid vascular system Coarctation of aorta Adducted thumb Bilateral single transverse palmar creases EEG abnormality Low-set, posteriorly rotated ears Developmental regression Abnormality of the liver Severe global developmental delay Dolichocephaly Abnormality of movement Hyperreflexia High, narrow palate Visual impairment Abnormality of retinal pigmentation Ptosis Abnormal palate morphology Convex nasal ridge Abnormality of neuronal migration Adrenal insufficiency Primary adrenal insufficiency Polar cataract Elevated long chain fatty acids Strabismus Congestive heart failure Nystagmus Pneumonia Small for gestational age Platyspondyly Recurrent fractures Premature birth Toe syndactyly Small hand Osteolytic defects of the distal phalanges of the hand Alopecia Intellectual disability, severe Recurrent infections Severe short stature Dandy-Walker malformation Congenital cataract Rhizomelia Congenital contracture Short humerus Irregular vertebral endplates Limb joint contracture Calcific stippling Stippled calcification proximal humeral epiphyses Arthralgia Intellectual disability, profound Short distal phalanx of finger Limitation of joint mobility Insulin resistance Muscular dystrophy Osteolysis Hyperlipidemia Dermal atrophy Abnormality of the musculature Prematurely aged appearance Absent eyelashes Abnormal eyebrow morphology Lack of skin elasticity Breast aplasia Feeding difficulties Spasticity Short foot Abnormality of dental morphology Optic nerve hypoplasia Microcornea Lissencephaly Triangular face Dental malocclusion Underdeveloped nasal alae Overgrowth Short palpebral fissure Fine hair Sparse scalp hair Dental crowding Abnormality of dental enamel Sparse eyelashes Hyperostosis Encephalocele Basal ganglia calcification Narrow nose Spinal cord compression Mild global developmental delay Large earlobe Pachygyria Cutaneous syndactyly of toes Cranial hyperostosis Persistent pupillary membrane Macrodontia of permanent maxillary central incisor Fifth finger distal phalanx clinodactyly 4-5 finger syndactyly 2-4 toe cutaneous syndactyly Stippled chondral calcification



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