Low-set ears, and Cerebral calcification

Diseases related with Low-set ears and Cerebral calcification

In the following list you will find some of the most common rare diseases related to Low-set ears and Cerebral calcification that can help you solving undiagnosed cases.

Top matches:

Medium match FOWLER SYNDROME

The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare, autosomal recessive, usually prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications. It is usually diagnosed by ultrasound between 26 and 33 weeks' gestation (summary by Meyer et al., 2010). Rarely, affected individuals may survive, but are severely impaired with almost no neurologic development (Kvarnung et al., 2016).

FOWLER SYNDROME Is also known as epv|cerebral proliferative glomeruloid vasculopathy|fowler syndrome|proliferative vasculopathy and hydranencephaly/hydrocephaly|hydranencephaly, fowler type|hydrocephaly/hydranencephaly due to cerebral vasculopathy|encephaloclastic proliferative vasculopa

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FOWLER SYNDROME

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Other less relevant matches:

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is an immunoosseous dysplasia combining the typical metaphyseal and vertebral bone lesions of spondyloenchondrodysplasia (SPENCD) with immune dysfunction and neurologic involvement. The skeletal dysplasia is characterized by radiolucent and irregular spondylar and metaphyseal lesions that represent islands of chondroid tissue within bone. The vertebral bodies show dorsally accentuated platyspondyly with disturbance of ossification. Clinical abnormalities such as short stature, rhizomelic micromelia, increased lumbar lordosis, barrel chest, facial anomalies, and clumsy movements may be present (Menger et al., 1989). Central nervous system involvement includes spasticity, mental retardation, and cerebral calcifications, and immune dysregulation ranges from autoimmunity to immunodeficiency. Neurologic and autoimmune manifestations have been observed in different combinations within a single family, suggesting that this disorder may be defined by specific radiographic features but has remarkably pleiotropic manifestations (Renella et al., 2006). Briggs et al. (2016) also noted variability in skeletal, neurologic, and immune phenotypes, which was sometimes marked between members of the same family. Classification of the EnchondromatosesIn their classification of the enchondromatoses, Spranger et al. (1978) called Ollier disease and Maffucci syndrome types I and II enchondromatosis, respectively; metachondromatosis (OMIM ), type III; and spondyloenchondrodysplasia (SPENCD), also called spondyloenchondromatosis, type IV; enchondromatosis with irregular vertebral lesions, type V; and generalized enchondromatosis, type VI. Halal and Azouz (1991) added 3 tentative categories to the 6 in the classification of Spranger et al. (1978).Pansuriya et al. (2010) suggested a new classification of enchondromatosis (multiple enchondromas).

SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI Is also known as spencd|combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia|roifman immunoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Spasticity
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Medium match MONOSOMY 9Q22.3

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.

MONOSOMY 9Q22.3 Is also known as microdeletion 9q22.3

Related symptoms:

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


SOURCES: ORPHANET MESH MENDELIAN

More info about MONOSOMY 9Q22.3

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Medium match MARSHALL SYNDROME

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MARSHALL SYNDROME

Medium match DIASTROPHIC DWARFISM

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).

DIASTROPHIC DWARFISM Is also known as diastrophic dysplasia|dd

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIASTROPHIC DWARFISM

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.

LETHAL OSTEOSCLEROTIC BONE DYSPLASIA Is also known as raine syndrome|osteosclerotic bone dysplasia, lethal

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LETHAL OSTEOSCLEROTIC BONE DYSPLASIA

Top 5 symptoms//phenotypes associated to Low-set ears and Cerebral calcification

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Long philtrum Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Low-set ears and Cerebral calcification. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Anemia Intellectual disability Microcephaly Pneumonia Growth delay Cataract Hypertelorism Respiratory insufficiency Hydrocephalus Ventriculomegaly Macrocephaly Hearing impairment Intrauterine growth retardation Visual impairment Brachycephaly Downslanted palpebral fissures Abnormality of the dentition Arthralgia Microphthalmia Epicanthus Basal ganglia calcification Narrow mouth Anteverted nares Micromelia Depressed nasal bridge Midface retrusion Kyphosis Spasticity Thrombocytopenia Short nose Abnormality of the skeletal system Failure to thrive Abnormal facial shape Flexion contracture Generalized hypotonia Arthrogryposis multiplex congenita High palate

Rare Symptoms - Less than 30% cases

Large earlobe Metaphyseal sclerosis Scoliosis Depressivity Strabismus Pectus excavatum Spinal cord compression Macrodontia of permanent maxillary central incisor Short neck Cerebellar hypoplasia Feeding difficulties Hepatomegaly Muscular hypotonia Splenomegaly Hypertonia Proptosis Hypotrichosis Respiratory tract infection Hepatosplenomegaly Elevated hepatic transaminase Apnea Skeletal dysplasia Kyphoscoliosis Severe short stature Recurrent respiratory infections Osteoarthritis Intellectual disability, mild Congenital cataract Narrow nose Joint hyperflexibility Malar flattening Glaucoma Abnormality of the ribs Calcification of falx cerebri Lissencephaly Bowing of the long bones Purpura Respiratory failure Fever Microretrognathia Clinodactyly Nystagmus Pain Frontal bossing Sensorineural hearing impairment Myopia Delayed eruption of teeth Recurrent otitis media Hypoplasia of the maxilla Sparse scalp hair Platyspondyly Sparse eyelashes Large fontanelles Increased bone mineral density Tetraplegia Concave nasal ridge Wide tufts of distal phalanges Irregular distal femoral epiphysis Sparse eyebrow Hypoplastic frontal sinuses Thickened calvaria Hypoplasia of the zygomatic bone Lens luxation Aplasia cutis congenita Ulnar bowing Irregular proximal tibial epiphyses Radial bowing Pierre-Robin sequence Anhidrotic ectodermal dysplasia Thick upper lip vermilion Hypoplastic ilia Abnormal vitreous humor morphology Vitreoretinopathy Small proximal tibial epiphyses Absent frontal sinuses Hyperhidrosis Ectopia lentis Short 1st metacarpal Fibrosarcoma Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Stiff neck Broad femoral neck Short hallux Small cervical vertebral bodies Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Hamartoma Spinal rigidity Hallux valgus Metaphyseal widening Ectopic ossification Ectopic ossification in muscle tissue Coxa valga Bifid uvula Sparse and thin eyebrow Hypohidrosis Amblyopia Thick lower lip vermilion High myopia Otitis media Esotropia Ectodermal dysplasia Retinal detachment Ectopic ossification in ligament tissue Flat face Genu valgum Sparse hair Small distal femoral epiphysis Wide nasal bridge Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Meningeal calcification Elbow dislocation Cryptorchidism Bulbous nose Gingival overgrowth Hypoplasia of dental enamel Choanal atresia Depressed nasal ridge Microdontia Macroglossia Highly arched eyebrow Downturned corners of mouth Pulmonary hypoplasia Wide mouth Narrow palate Protruding ear Hydronephrosis Retrognathia Mandibular prognathia Dyspnea Prominent forehead Posteriorly rotated ears Respiratory distress Dysphagia Brachydactyly Wide anterior fontanel Plagiocephaly Cystic lesions of the pinnae Choanal stenosis Craniofacial disproportion Alveolar ridge overgrowth Bilateral choanal atresia Mandibular aplasia Brachyturricephaly Long hallux Median cleft lip and palate Gingival fibromatosis Generalized osteosclerosis Osteopetrosis Sleep apnea Obstructive sleep apnea Protruding tongue Natal tooth Mixed hearing impairment Thoracic hypoplasia Delayed cranial suture closure Hydroureter Hypophosphatemia Elevated alkaline phosphatase Abnormality of the genitourinary system Hypertrophic auricular cartilage Costal cartilage calcification Talipes equinovarus Interphalangeal joint contracture of finger Abnormality of the metacarpal bones Abnormality of the outer ear Joint dislocation Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Abnormal form of the vertebral bodies Abnormality of the metaphysis Blue sclerae Limb undergrowth Short long bone Hip dysplasia Full cheeks Talipes Abnormality of the foot Camptodactyly of finger Joint stiffness Low-set, posteriorly rotated ears Abnormal heart morphology Obesity Abnormality of cardiovascular system morphology Disproportionate short-limb short stature Hyperextensible skin Laryngotracheal stenosis Ulnar deviation of the hand Glabellar hemangioma Hypoplastic cervical vertebrae Hitchhiker thumb Cervical kyphosis Ulnar deviation of the wrist Spinal deformities Neonatal short-limb short stature Flattened epiphysis Visceral angiomatosis Lethal skeletal dysplasia Sarcoma Irregular epiphyses Symphalangism affecting the phalanges of the hand Thoracic dysplasia Abnormality of the clavicle Overweight Hip contracture Ulnar deviation of finger Short finger Proximal placement of thumb Overfolded helix Back pain Hyperactivity Widely spaced teeth Paralysis Muscle stiffness Bradycardia Leukodystrophy Progressive microcephaly Pancytopenia Convex nasal ridge Pruritus Severe global developmental delay Encephalopathy Atrophy/Degeneration affecting the brainstem Cerebral atrophy Dystonia Cerebellar atrophy Tremor 2-4 toe cutaneous syndactyly 4-5 finger syndactyly Fifth finger distal phalanx clinodactyly Persistent pupillary membrane Leukopenia Facial paralysis Cranial hyperostosis Lymphadenopathy Encephalitis Recurrent bacterial infections Rhizomelia Abnormal lung morphology Lumbar hyperlordosis Spastic tetraplegia Hepatitis Hemolytic anemia Abnormality of the cerebral white matter Lymphocytosis Autoimmunity Hyperlordosis Arthritis Hypothyroidism Recurrent infections Immunodeficiency Diarrhea CSF lymphocytic pleiocytosis Broad long bones Cutaneous syndactyly of toes Nephritis Pterygium Severe hydrocephalus Multiple pterygia Limb joint contracture Hydranencephaly Fetal akinesia sequence Cystic hygroma Hypoplasia of the brainstem Akinesia Hypsarrhythmia Syndactyly Decreased fetal movement Dandy-Walker malformation Premature birth Polyhydramnios Agenesis of corpus callosum Abnormality of metabolism/homeostasis Dilatation Skeletal muscle atrophy Delayed speech and language development Delayed skeletal maturation Hypoplasia of teeth Overgrowth Mild global developmental delay Long nose Hyperostosis Abnormality of dental morphology Abnormality of dental enamel Dental crowding Fine hair Short palpebral fissure Underdeveloped nasal alae Deeply set eye Dental malocclusion Triangular face Microcornea Short foot Small hand Thin vermilion border Toe syndactyly Telecanthus Systemic lupus erythematosus Rheumatoid arthritis Finger clinodactyly Retinopathy Basal cell carcinoma Large for gestational age Nephroblastoma Trigonocephaly Arnold-Chiari malformation Accelerated skeletal maturation Tall stature Oral cleft Umbilical hernia Medulloblastoma Polydactyly Congenital microcephaly Increased CSF protein Petechiae Spastic tetraparesis Opacification of the corneal stroma Cerebral visual impairment Decreased liver function Abnormality of the vertebral column Rhabdomyosarcoma Pachygyria Alopecia Aspiration Abnormal vertebral morphology Short thumb Subcutaneous nodule Myocardial infarction Limitation of joint mobility Conductive hearing impairment Difficulty walking Clinodactyly of the 5th finger Metopic synostosis Congestive heart failure Neoplasm Cardiac fibroma Odontogenic keratocysts of the jaw Plantar pits Thickened ears Ovarian fibroma Palmar pits Postnatal microcephaly Tetraparesis Metaphyseal irregularity Irregular vertebral endplates Madelung deformity Decrease in T cell count Tubulointerstitial fibrosis Cellular immunodeficiency Spondylometaphyseal dysplasia Immune dysregulation Juvenile rheumatoid arthritis Barrel-shaped chest Vitiligo Arthralgia/arthritis Autoimmune thrombocytopenia Recurrent sinusitis Autoimmune hemolytic anemia Scleroderma Hypermelanotic macule Restrictive ventilatory defect Combined immunodeficiency Spastic diplegia Progressive spastic quadriplegia Hypopigmented skin patches on arms Status epilepticus Skin rash Intellectual disability, profound Sloping forehead Neuronal loss in central nervous system Gliosis Polymicrogyria Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Abnormality of the liver Hyperreflexia Hypertrophic cardiomyopathy Muscular hypotonia of the trunk Jaundice Micropenis Cerebral cortical atrophy Renal insufficiency Intellectual disability, severe Cardiomyopathy Hypoplastic nasal bridge


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