Macrocephaly, and Aortic valve stenosis

Diseases related with Macrocephaly and Aortic valve stenosis

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


Top matches:

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match EHLERS-DANLOS SYNDROME, PROGEROID TYPE


Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

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Other less relevant matches:

Medium match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Medium match 2Q37 MICRODELETION SYNDROME


Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.

2Q37 MICRODELETION SYNDROME Is also known as albright hereditary osteodystrophy-like syndrome|del(2)(q37)|monosomy 2q37-qter|brachydactyly-intellectual disability syndrome|albright hereditary osteodystrophy type 3|brachydactyly-mental retardation syndrome|bdmr|deletion 2q37-qter|deletion 2q37

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about 2Q37 MICRODELETION SYNDROME

Medium match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Medium match ARTERIAL TORTUOSITY SYNDROME; ATS


ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match 3C SYNDROME


Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).

3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect|craniocerebellocardiac dysplasia|3c syndrome|ritscher-schinzel syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3C SYNDROME

Medium match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Aortic valve stenosis

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Macrocephaly and Aortic valve stenosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Pectus carinatum

Common Symptoms - More than 50% cases


Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases


Short neck

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Hydrocephalus

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Pulmonic stenosis Joint hyperflexibility Muscular hypotonia Generalized hypotonia Depressed nasal bridge Abnormality of cardiovascular system morphology Skeletal dysplasia Umbilical hernia Joint laxity Hearing impairment Micrognathia Cleft palate Pectus excavatum Osteopenia Frontal bossing Ventricular septal defect Abnormality of the dentition Hypertension Delayed speech and language development Flexion contracture Wide nasal bridge Iris coloboma Osteoporosis Coarse facial features Kyphosis Prominent forehead Splenomegaly Scarring Hypospadias Microcephaly Patent ductus arteriosus Long philtrum Brachydactyly Anteverted nares Subvalvular aortic stenosis Wide nose Feeding difficulties Epicanthus Growth delay Broad forehead Cryptorchidism Telecanthus Thin vermilion border Congenital diaphragmatic hernia Cognitive impairment Recurrent respiratory infections Sparse hair Cataract Alopecia Feeding difficulties in infancy Bowing of the long bones Osteolysis Narrow mouth Downturned corners of mouth Joint hypermobility Prominent occiput Intestinal malrotation Delayed puberty Behavioral abnormality Bruising susceptibility Wormian bones Dolichocephaly Gastroesophageal reflux Macrotia Thickened skin Short toe Mitral stenosis Respiratory distress Seizures Abnormality of the skeletal system Headache Ventriculomegaly Atrial septal defect Hepatomegaly Periodontitis

Rare Symptoms - Less than 30% cases


Glaucoma Cardiomyopathy Edema Abnormality of the skull Optic atrophy Postnatal growth retardation Short distal phalanx of finger Hepatosplenomegaly Retinopathy Corneal opacity Dandy-Walker malformation Full cheeks Hip dysplasia High forehead Dysostosis multiplex Low posterior hairline Neoplasm Neurological speech impairment Coloboma Cerebellar hypoplasia Hydronephrosis Blepharophimosis Abnormal aortic morphology Arnold-Chiari malformation Patellar dislocation Multiple renal cysts Syringomyelia Open bite Abnormality of the voice Coarse hair Synophrys Abnormality of the fingernails Bilateral single transverse palmar creases Tracheomalacia Generalized hirsutism Low anterior hairline Skin ulcer Bone pain Peripheral neuropathy Myopia Arthralgia Short chin Decreased skull ossification Pain Dry skin Malar flattening Brachycephaly Dilatation Finger syndactyly Toe syndactyly Thick eyebrow Abnormality of the kidney Thick vermilion border Biconcave vertebral bodies Highly arched eyebrow Ptosis Partial absence of toe Hypoplastic 5th lumbar vertebrae Absent frontal sinuses Rough bone trabeculation Wide intermamillary distance Platybasia Soft, doughy skin Tetraplegia Recurrent fractures Hypermetropia Atrophic scars Single transverse palmar crease Pulmonary arterial hypertension Stereotypy Horseshoe kidney Broad face Motor delay Midface retrusion Pes planus Hyperextensible skin Abnormality of skin pigmentation Cutis laxa Accelerated skeletal maturation Arachnodactyly Sparse and thin eyebrow Thin skin Sparse scalp hair Fine hair Nevus Bifid uvula Triangular face Long face Lipodystrophy Oral cleft High palate Posteriorly rotated ears Autism Thin upper lip vermilion Clinodactyly of the 5th finger Microphthalmia Short nose Aggressive behavior Cleft lip Gait disturbance Hyperactivity Respiratory tract infection Prominent nasal bridge Attention deficit hyperactivity disorder Gynecomastia Basilar invagination Secondary growth hormone deficiency Increased body weight Recurrent pneumonia Galactorrhea Diplopia Hypogonadotrophic hypogonadism Aortic regurgitation Ischemic stroke Easy fatigability Oculomotor nerve palsy Hyperinsulinemia Heart murmur Basilar impression Premature loss of permanent teeth Hyperglycemia Pituitary hypothyroidism Aortic root aneurysm Male hypogonadism Hiatus hernia Soft skin Adrenocorticotropic hormone deficiency Pulmonary artery stenosis Growth hormone excess Keratoconus Rectal prolapse Bladder diverticulum Flank pain Impotence Abnormal thrombosis Pierre-Robin sequence Epiphora Blurred vision Convex nasal ridge Telangiectasia Abnormality of the mandible Abnormal tricuspid valve morphology Fatigue Abnormality of the fontanelles or cranial sutures Posterior fossa cyst Contractures of the large joints Osteolytic defects of the phalanges of the hand Facial hemangioma Humoral immunodeficiency Cerebellar malformation Blindness Primum atrial septal defect Recurrent infections Paresthesia Delayed cranial suture closure Hypoplasia of the zygomatic bone Hematuria Dental malocclusion Glomerulonephritis Lethal skeletal dysplasia Complete atrioventricular canal defect Ventricular hypertrophy Stroke Amenorrhea Progressive visual loss Polycystic kidney dysplasia Missing ribs Single umbilical artery Ectopic anus Hypotension Vertigo Pallor Aplasia/Hypoplasia of the nipples Enlarged cisterna magna Respiratory failure Arterial tortuosity Communicating hydrocephalus Hypoplastic fingernail Vomiting Respiratory arrest Abnormal mitral valve morphology Decreased fertility in females Postural instability Decreased female libido Prominent fingertip pads Reduced factor IX activity Aplasia/Hypoplasia of the cerebellum Unilateral renal agenesis Abnormality of the mediastinum Arteritis Abnormality of neuronal migration Pulmonary lymphangiectasia Monocytosis Hypoplastic left heart Broad toe Chylothorax Chorioretinal coloboma Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Mesomelia Short attention span Hydrocele testis Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Hypoplasia of olfactory tract Hand polydactyly Cubitus valgus Reduced factor X activity Anal atresia Abnormal cardiac septum morphology Camptodactyly Decreased antibody level in blood Abnormal heart morphology Growth hormone deficiency Immunodeficiency Syndactyly Intrauterine growth retardation Abnormality of the subarachnoid space Reduced prothrombin activity Abnormality of the hand Renal agenesis Tetralogy of Fallot Limb undergrowth Hypoplasia of penis Cerebellar vermis hypoplasia Large fontanelles Juvenile myelomonocytic leukemia Preauricular skin tag Hemivertebrae Narrow palate Reduced factor XII activity Overfolded helix Abnormality of the thorax Decreased circulating ACTH level Abnormality of hair density Leukemia Posterior embryotoxon Low-set, posteriorly rotated ears Adrenal hypoplasia Double outlet right ventricle Polyhydramnios Thrombocytopenia Myopathy Strabismus Aortic tortuosity Telangiectases of the cheeks Astigmatism Internal ophthalmoplegia Curved fingers Generalized arterial tortuosity Fourth cranial nerve palsy Cranial nerve VI palsy Decreased fertility in males Bitemporal hemianopia High, narrow palate Dyspareunia Female hypogonadism Sudden loss of visual acuity Abnormality of the foot Narrow nasal bridge Pleural effusion Cafe-au-lait spot Bilateral ptosis Failure to thrive in infancy Cholelithiasis Poor suck Deep philtrum Bicuspid aortic valve Torticollis Vasculitis Hydrops fetalis Lymphedema Hyperpigmentation of the skin Falls Mitral regurgitation Congenital glaucoma Epistaxis Cyanosis Esotropia Webbed neck Lymphoma Abnormality of the hip bone Abnormal bleeding Atrioventricular canal defect Ascites Adrenocorticotropin deficient adrenal insufficiency Epibulbar dermoid Self-biting Phalangeal dislocation Macroglossia Hirsutism Genu valgum Joint stiffness Apnea Hypothyroidism Intellectual disability, severe Palmoplantar cutis gyrata Abnormality of primary teeth Facial wrinkling Testicular torsion Spastic tetraplegia Slender toe Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead Absent earlobe Talipes equinovalgus Forearm undergrowth Ulnar bowing Dermal translucency Long toe Waddling gait Lumbar hyperlordosis Small face Aseptic necrosis Myelopathy Constrictive median neuropathy Flared iliac wings Broad ribs Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Spinal canal stenosis Tetraparesis Abnormal heart valve morphology Metaphyseal irregularity Metaphyseal widening Epiphyseal dysplasia Recurrent upper respiratory tract infections Sleep apnea Spastic tetraparesis Opacification of the corneal stroma Decreased body weight Split hand Progressive neurologic deterioration Poor wound healing Generalized osteoporosis Prominent sternum Psychosis Skeletal muscle atrophy Six lumbar vertebrae Shallow orbits Bipolar affective disorder Nasal speech Sandal gap Narrow face Aspiration Anorexia Dental crowding Prominent nose Intellectual disability, mild Tapered finger Everted lower lip vermilion Facial asymmetry Small for gestational age Short philtrum Intellectual disability, moderate Anxiety Gait ataxia Clinodactyly Depressivity Ataxia Talipes equinovarus Severe short stature Varicose veins Sparse eyebrow Progeroid facial appearance Mild global developmental delay Atypical scarring of skin Gingivitis Genu recurvatum Short clavicles Proportionate short stature Curly hair Bowing of the legs Bilateral cryptorchidism Elbow dislocation Radioulnar synostosis Proptosis Sparse eyelashes Joint dislocation Coxa valga Elbow flexion contracture Cutaneous photosensitivity Blue sclerae Flat face Narrow chest Microtia Abnormality of the nervous system Kyphoscoliosis Retinal fold Cervical myelopathy Pain insensitivity Osteochondrosis Conductive hearing impairment Deeply set eye Upslanted palpebral fissure Hyporeflexia Arrhythmia Obesity Sensorineural hearing impairment Lipomas of the central neryous system Abnormal cartilage morphology Linear hyperpigmentation Odontoma Short palm Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Hemiatrophy Subcutaneous lipoma Tricuspid valve prolapse Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Autistic behavior Small hand Glioma Short metatarsal Broad columella Renal neoplasm Low hanging columella Overweight Supernumerary nipple Mild short stature Obsessive-compulsive behavior Self-injurious behavior Nephroblastoma Pyloric stenosis Laryngomalacia Short foot Narrow palpebral fissure Multicystic kidney dysplasia Short phalanx of finger Broad-based gait Narrow forehead Eczema Underdeveloped nasal alae Short metacarpal Round face Broad nasal tip Sleep disturbance Visceral angiomatosis Interrupted aortic arch Cervical instability Paralysis Sacral dimple Muscle stiffness Subcutaneous nodule Abnormality of the face Hemiparesis Intellectual disability, profound Coarctation of aorta Cerebral calcification Hypotrichosis Papule Rigidity Mutism Cerebral cortical atrophy Agenesis of corpus callosum Cerebral atrophy Hypertonia Hypoplasia of the corpus callosum Spasticity Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Hemangioma Hemiplegia Porencephalic cyst Sclerocornea Bone cyst Peripheral pulmonary artery stenosis Craniofacial hyperostosis Astrocytoma Xanthomatosis Hemihypertrophy Echolalia Ectopia pupillae Eyelid coloboma Abnormal eyelid morphology Skin tags Capillary hemangioma Aphasia Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Absent septum pellucidum Multiple lipomas Cortical dysplasia Dysphasia Osteolytic defects of the phalanges of the toes



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