Macrocephaly, and Congenital cataract

Diseases related with Macrocephaly and Congenital cataract

In the following list you will find some of the most common rare diseases related to Macrocephaly and Congenital cataract that can help you solving undiagnosed cases.

Top matches:

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) 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. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder 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 Vuillaumier-Barrot 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, 10; MDDGA10 Is also known as walker-warburg syndrome or muscle-eye-brain disease, tmem5-related

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Cataract
  • Macrocephaly
  • Ventriculomegaly


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10; MDDGA10

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cataract


SOURCES: OMIM MENDELIAN

More info about COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS; COMMAD

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

Other less relevant matches:

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

Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Congenital cataract

Symptoms // Phenotype % cases
Cataract Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Microphthalmia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Macrocephaly and Congenital cataract. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Strabismus Muscular hypotonia Intrauterine growth retardation Hydrocephalus Protruding ear Abnormal facial shape Growth delay Scoliosis Myopia Microcephaly Areflexia Posteriorly rotated ears Dilatation Agenesis of corpus callosum Myopathy Ventriculomegaly Intellectual disability, severe Pachygyria Type II lissencephaly Congenital muscular dystrophy Broad forehead Muscular dystrophy Hypertelorism Muscle weakness Intellectual disability, profound Skeletal muscle atrophy Retinal detachment Low-set ears Hearing impairment Lissencephaly Encephalocele Optic atrophy Cerebellar hypoplasia Cerebellar dysplasia Frontal bossing Short distal phalanx of finger Retinal dysplasia Elevated serum creatine phosphokinase Micrognathia Gait disturbance Abnormality of the cerebral white matter Polymicrogyria Hypoplasia of the corpus callosum Small nail

Rare Symptoms - Less than 30% cases

Cerebellar cyst Visual impairment Hypoglycosylation of alpha-dystroglycan Agyria Delayed speech and language development Heterotopia Buphthalmos Hypoplasia of the brainstem Renal dysplasia Cerebellar vermis hypoplasia Glaucoma Motor delay Hypertonia Respiratory insufficiency Wide anterior fontanel Anonychia Ataxia Thickened skin Thick lower lip vermilion Behavioral abnormality Synophrys Gait ataxia Macrotia Dyspnea Congestive heart failure Cardiomyopathy Abnormality of the skeletal system Downslanted palpebral fissures Hepatomegaly Gliosis Respiratory distress Knee flexion contracture Pectus excavatum Brachycephaly Abnormality of the pinna Dilated cardiomyopathy Generalized muscle weakness Hemivertebrae Plagiocephaly Bulbous nose Clonus Spasticity Depressed nasal bridge Brachydactyly Depressivity Deeply set eye Cryptorchidism Dystrophic fingernails Basal ganglia calcification Abnormality of the liver Postnatal growth retardation Sensorineural hearing impairment Osteopenia Autism Coloboma Hypermetropia Prominent forehead Delayed cranial suture closure Microcornea Hernia Edema Feeding difficulties Anemia Failure to thrive Short stature Atrophy/Degeneration affecting the brainstem Telecanthus Occipital encephalocele Oligohydramnios Hip dislocation Corneal opacity Large for gestational age Narrow iliac wings Abnormality of the genital system Ectopic calcification Tetraparesis Cardiomegaly Restrictive ventilatory defect Ragged-red muscle fibers Waddling gait Bone cyst Aciduria Abnormal glucose tolerance Difficulty climbing stairs Increased serum lactate Tetraplegia Posterior polar cataract Muscle cramps Renal cyst Left ventricular hypertrophy Ventricular fibrillation Anorexia Easy fatigability Spastic tetraparesis Pancreatitis Mutism Scapular winging Exercise intolerance Type I diabetes mellitus Poor head control Cardiac arrest Slurred speech Hyperammonemia Metabolic acidosis Polycystic kidney dysplasia Back pain Leukodystrophy Hemiplegia Stridor Recurrent ear infections Decreased liver function Coma Nausea and vomiting Absent axillary hair Pain Headache Absent facial hair Diarrhea Vomiting Dysphagia Fatigue Tremor Increased size of the mandible Fever Dysarthria Mesiodens Arrhythmia Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Everted upper lip vermilion Generalized hypertrichosis Calcification of the auricular cartilage Biliary atresia Cavernous hemangioma Hyperextensibility of the finger joints Gingival fibromatosis Encephalopathy Respiratory failure Hepatic steatosis Myalgia Pulmonary hypoplasia Lactic acidosis Nausea Joint hyperflexibility Limb muscle weakness Rhabdomyolysis Lethargy Respiratory tract infection Hyperlordosis Hypertrophic cardiomyopathy Proximal muscle weakness Weight loss Elevated hepatic transaminase Basilar impression Hypoglycemia Motor tics Torus palatinus Posterior scalloping of vertebral bodies Difficulty walking Jaundice Arthralgia High forehead Acidosis Glycosuria Myoglobinuria Acute kidney injury Intellectual disability, mild Pes cavus Schizophrenia Self-injurious behavior Melanocytic nevus Babinski sign Bilateral cryptorchidism Metatarsus adductus Midface retrusion Malar flattening Kyphosis Anteverted nares Osteolysis Truncal obesity Peripheral neuropathy Ptosis Neoplasm Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Mixed hearing impairment Abnormal palate morphology Spastic paraparesis Hypersarcosinemia Narrow chest Sparse scalp hair Bradykinesia Cerebral calcification Hip dysplasia Otitis media Nevus Hypoplasia of the maxilla Neurodegeneration Downturned corners of mouth Distal amyotrophy Genu valgum Prominent nasal bridge Paraparesis Abnormal pyramidal sign Developmental regression Aggressive behavior Conductive hearing impairment Hypothyroidism Narrow mouth Diabetes mellitus Hypogonadism Gynecomastia Osteoporosis Hypergonadotropic hypogonadism Fatigable weakness of distal limb muscles Ethylmalonic aciduria Fatigable weakness Progressive gait ataxia Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Restlessness Insulin-resistant diabetes mellitus Irregular vertebral endplates Poor coordination Thoracic kyphosis Hypoketotic hypoglycemia Broad face Loss of ability to walk Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Tics Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Abnormal form of the vertebral bodies Drowsiness Generalized osteoporosis Abnormal corpus callosum morphology Acute pancreatitis Reye syndrome-like episodes Sparse body hair Long penis Ankle clonus Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Respiratory arrest Impaired mastication Nonketotic hypoglycemia Congenital hypothyroidism Hip contracture Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Striae distensae Oliguria Generalized aminoaciduria Reduced protein C activity Dermal atrophy Colpocephaly Blindness Iris coloboma Oral cleft Cleft upper lip Anal atresia Microtia Retinopathy Cleft lip Hydronephrosis Proptosis Hyporeflexia Cleft palate Bifid uvula 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 Thin long bone diaphyses Cortical thickening of long bone diaphyses Postnatal macrocephaly Congenital hypoparathyroidism Retinal dystrophy Dandy-Walker malformation Hypocalcemic tetany Megalocornea Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Excessive daytime sleepiness Muscle fiber splitting Peters anomaly Aqueductal stenosis Abnormality of the optic nerve Abnormal cortical gyration Bilateral cleft lip Retinal atrophy Specific learning disability Submucous cleft hard palate Absent septum pellucidum Congenital glaucoma Abnormality of neuronal migration Anophthalmia Congenital contracture Atresia of the external auditory canal Optic nerve hypoplasia Severe muscular hypotonia Hypoplasia of penis Thickened cortex of long bones Hypocalcemic seizures Abnormality of the cerebellar vermis Talipes equinovarus Unilateral renal agenesis Adducted thumb Cutis laxa Aortic regurgitation Spontaneous abortion Wormian bones Thin skin Triangular face Autistic behavior Inguinal hernia Generalized hypopigmentation Reduced subcutaneous adipose tissue Blue irides Osteopetrosis Shallow orbits Premature graying of hair Albinism Preauricular pit Congenital sensorineural hearing impairment Facial cleft Gonadal dysgenesis Broad-based gait Brisk reflexes Spinal canal stenosis Persistence of primary teeth Hypocalcemia Bilateral microphthalmos Delayed closure of the anterior fontanelle Tetany Decreased skull ossification Hyperphosphatemia Hypoparathyroidism Papilledema Proportionate short stature High hypermetropia High pitched voice Increased bone mineral density Premature skin wrinkling High myopia Decreased testicular size Neutropenia Infertility Carious teeth Small for gestational age Severe short stature Delayed skeletal maturation Small foramen magnum Dermal translucency Calcaneovalgus deformity Abnormal levels of creatine kinase in blood Metatarsus valgus Thin bony cortex High-pitched cry Mandibular prognathia Polydactyly Patent ductus arteriosus Splenomegaly Wide nasal bridge Hypertension High palate Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita Retrocerebellar cyst Coarse facial features Retinal fold Aplasia cutis congenita of scalp Periventricular leukomalacia Corpus callosum atrophy Aplasia cutis congenita Short finger Cutis marmorata Cerebral palsy Narrow palpebral fissure Low anterior hairline Polyhydramnios Umbilical hernia Blue sclerae Generalized hirsutism Broad ribs Protruding tongue Aortic root aneurysm Pericardial effusion Metaphyseal widening Growth abnormality Hemangioma Spina bifida occulta Accelerated skeletal maturation Intellectual disability, progressive Gingival overgrowth Hepatosplenomegaly Nephrolithiasis Hypertrichosis Bilateral sensorineural hearing impairment Overgrowth Macroglossia Delayed eruption of teeth Thick vermilion border Hirsutism Thick eyebrow Joint hypermobility Wide mouth Lymphedema Wide intermamillary distance Severe hydrocephalus Apnea EMG abnormality Congenital hip dislocation Bradycardia Preauricular skin tag Brain atrophy Abnormal cerebellum morphology Pulmonic stenosis Arthrogryposis multiplex congenita Dolichocephaly Camptodactyly of finger Neonatal hypotonia Aplasia/Hypoplasia of the corpus callosum Rigidity EEG abnormality Atrial septal defect Abnormal aldolase level Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Holoprosencephaly Mask-like facies Single transverse palmar crease Thoracic hemivertebrae Short foot Muscular hypotonia of the trunk Abnormality of the nervous system Alopecia Abnormal heart morphology Cerebral atrophy Syndactyly Epicanthus Hypoplasia of the pyramidal tract Cephalocele Exaggerated startle response Skeletal muscle hypertrophy Myocardial fibrosis Ankle contracture Anencephaly Weak cry Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Superiorly displaced ears


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Bilateral sensorineural hearing impairment, related diseases and genetic alterations Hepatomegaly and Leukodystrophy, related diseases and genetic alterations