Microcephaly, and Hypercholesterolemia

Diseases related with Microcephaly and Hypercholesterolemia

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


Top matches:

High match COG4-CDG


COG4-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia.

COG4-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iij|cdg-iij|cdg syndrome type iij|cdg2j|congenital disorder of glycosylation type iij|congenital disorder of glycosylation type 2j|cdgiij|cdg iij

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COG4-CDG

High match 17P11.2 MICRODUPLICATION SYNDROME


17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

High match SMITH-MAGENIS SYNDROME


Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

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Other less relevant matches:

High match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

High match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

High match SMITH-LEMLI-OPITZ SYNDROME


Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

Medium match FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY


FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY Is also known as apoc2 deficiency|hyperlipoproteinemia, type ib|familial apoc-ii deficiency|c-ii anapolipoproteinemia

Related symptoms:

  • Global developmental delay
  • Pain
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL APOLIPOPROTEIN C-II DEFICIENCY

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Medium match SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1


Spinocerebellar ataxia with axonal neuropathy type 1 is a rare, genetic neurological disorder characterized by a late childhood onset of slowly progressive cerebellar ataxia. Initial manifestations include weakness and atrophy of distal limb muscles, areflexia and loss of pain, vibration and touch sensations in upper and lower extremities. Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. Additional reported manifestations include seizures, mild brain atrophy, mild hypercholesterolemia and borderline hypoalbuminemia.

SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1 Is also known as scan1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH AXONAL NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Microcephaly and Hypercholesterolemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Microcephaly and Hypercholesterolemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Gastroesophageal reflux Wide nasal bridge Cleft palate Strabismus Anteverted nares Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Constipation Hearing impairment Generalized hypotonia Feeding difficulties Hypothyroidism Muscular hypotonia Delayed speech and language development Epicanthus Myopia Frontal bossing Abnormality of the kidney EEG abnormality Self-injurious behavior Feeding difficulties in infancy Stereotypy Hypertriglyceridemia Depressed nasal bridge Brachydactyly Pain Ventriculomegaly Short nose Midface retrusion Sensorineural hearing impairment Upslanted palpebral fissure Conductive hearing impairment Cataract Mandibular prognathia Nystagmus Failure to thrive in infancy Aplasia/Hypoplasia of the corpus callosum Broad-based gait Hoarse voice Malar flattening Anxiety Low-set, posteriorly rotated ears Obesity Cerebral atrophy Attention deficit hyperactivity disorder Hypermetropia Peripheral neuropathy Cryptorchidism Abnormality of the cardiovascular system Low-set ears Autism Dental crowding Macrocephaly Delayed eruption of teeth Microtia Intellectual disability, moderate Aggressive behavior Behavioral abnormality Abnormal renal morphology Prominent forehead Posteriorly rotated ears Hip dislocation Clinodactyly of the 5th finger Hyperactivity Deeply set eye Ataxia Decreased fetal movement Sleep disturbance Cardiomyopathy Kyphosis Synophrys Cognitive impairment High palate Abnormal heart morphology Joint stiffness Pes cavus Abnormality of the dentition Downslanted palpebral fissures Brachycephaly Self-mutilation

Rare Symptoms - Less than 30% cases


Relative macrocephaly Skeletal muscle atrophy Abnormality of the ribs Renal hypoplasia/aplasia Precocious puberty Hand polydactyly Coarctation of aorta Edema Intrauterine growth retardation Impaired pain sensation Motor delay Intestinal malrotation Abnormal tracheobronchial morphology Neoplasm Abnormal localization of kidney Hyperacusis Hypoplasia of penis Renal cyst Telangiectasia Brain atrophy Hepatic steatosis Congenital hypothyroidism Clinodactyly Hypospadias Overweight Narrow mouth Micropenis Hypogonadism Abnormality of the larynx Delayed skeletal maturation Patent ductus arteriosus Long philtrum Metatarsus adductus Atrial septal defect Hydrocephalus Ventricular septal defect Abnormality of the skeletal system Cavum septum pellucidum Optic atrophy Abnormal lung lobation Hydronephrosis Clitoral hypertrophy Areflexia Pachygyria Cerebral cortical atrophy Polyhydramnios Lethargy Dry skin Oral cleft Macroglossia Omphalocele Heterotopia Drowsiness Increased body weight Limb undergrowth Sacral dimple Abnormality of the urinary system Poor suck Dilated cardiomyopathy Pyloric stenosis Abnormality of the immune system Scrotal hypoplasia Abnormal form of the vertebral bodies Decreased body weight Bifid uvula Hepatosplenomegaly High hypermetropia Dysphasia Open bite Abnormality of dental morphology Infantile muscular hypotonia Skeletal dysplasia Proptosis Delayed myelination Small for gestational age Absent speech Talipes equinovarus Broad forehead Wide mouth Autistic behavior Neonatal hypotonia Dysphagia Hypertension Flexion contracture Dysarthria Hypocholesterolemia Patent foramen ovale Recurrent infections Cleft upper lip Hypertonia Splenomegaly Neurological speech impairment Pes planus Fever Hepatomegaly Toe syndactyly Delayed puberty Hyporeflexia Diarrhea Microcornea Gait disturbance Expressive language delay Retinal detachment Congestive heart failure Abnormality of dental enamel Short thumb Short toe Multicystic kidney dysplasia Hyperbilirubinemia Elevated 7-dehydrocholesterol Abdominal pain Encephalopathy Abnormality of the nervous system Lipemia retinalis Eruptive xanthomas Epigastric pain Chronic pancreatitis Gingival overgrowth Episodic abdominal pain Narrow forehead Pancreatitis Hyperlipoproteinemia Amblyopia Increased circulating chylomicron concentration Renal hypoplasia Eczema Ambiguous genitalia Coxa vara Wormian bones Congenital hip dislocation Oligohydramnios Thyroid hormone receptor defect No permanent dentition Congenital diaphragmatic hernia Clumsiness Flat face Intellectual disability, profound Joint laxity Rhizomelia Elevated serum creatine phosphokinase Abnormality of limbs Cutaneous photosensitivity Increased T3/T4 ratio Dilatation Recurrent otitis media Choanal atresia Split hand Anemia Abnormality of the genital system Aganglionic megacolon Long thorax Holoprosencephaly Alopecia Facial capillary hemangioma Severe failure to thrive Bifid tongue Bifid scrotum Aplasia/Hypoplasia of the cerebellum Overlapping fingers Sex reversal Excessive daytime somnolence Cutis marmorata Tracheal stenosis Overlapping toe 2-3 toe syndactyly Sclerocornea Adrenal insufficiency Hyperkalemia Mesomelia Bicornuate uterus Atrioventricular canal defect Abnormality of digit Biparietal narrowing Increased number of teeth Ulnar deviation of finger Microglossia Aplasia/Hypoplasia of the radius Male pseudohermaphroditism Postaxial foot polydactyly Upper limb undergrowth Abnormal eyelash morphology Severe intrauterine growth retardation Epiphyseal stippling Breech presentation Cholestatic liver disease Abnormal dermatoglyphics Median cleft palate Opsoclonus Severe photosensitivity Alveolar ridge overgrowth Sleep-wake cycle disturbance Septate vagina Abnormality of the gallbladder Hypoplasia of the frontal lobes Abnormality of the metacarpal bones Hypopigmentation of hair Talipes calcaneovalgus Optic nerve hypoplasia Increased serum testosterone level Hip subluxation Mesomelic short stature Gastrointestinal dysmotility Broad alveolar ridges Reduced number of teeth Gastroschisis Increased nuchal translucency Ectopic calcification Hyponatremia Proximal placement of thumb Ureteropelvic junction obstruction Advanced eruption of teeth Decreased circulating aldosterone level Hammertoe Unilateral renal agenesis Aplasia/Hypoplasia affecting the eye Periventricular gray matter heterotopia Thin ribs Dementia Hip pain Hypoplastic facial bones Prominent scalp veins Bird-like facies Mitral valve calcification Parietal bossing Widely patent fontanelles and sutures Intermittent claudication Corneal arcus Sinus tachycardia Decreased testosterone in males Premature coronary artery atherosclerosis Thin nail Absence of subcutaneous fat Aplastic clavicle Old-aged sensorineural hearing impairment Narrow nasal ridge Arteriosclerosis Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Lack of skin elasticity Angina pectoris Prominent superficial veins Reticulated skin pigmentation Craniofacial disproportion Ovoid vertebral bodies Apraxia Pain insensitivity Spastic dysarthria Spinocerebellar tract degeneration Distal lower limb muscle weakness Impaired vibration sensation in the lower limbs Axonal loss Cerebellar vermis atrophy Gaze-evoked nystagmus Global brain atrophy Sensory axonal neuropathy Steppage gait Hypoalbuminemia Oculomotor apraxia Sensorimotor neuropathy Progressive cerebellar ataxia Bilateral coxa valga Sensory neuropathy Distal amyotrophy Peripheral axonal neuropathy Gait ataxia Immunodeficiency Cerebellar atrophy Tapering pointed ends of distal finger phalanges Arteriosclerosis of small cerebral arteries Regional abnormality of skin Abnormal trabecular bone morphology Insulin-resistant diabetes mellitus at puberty Absence of pubertal development Carotid artery stenosis Narrow nasal tip Osteolytic defects of the phalanges of the hand Hyperphosphatemia Osteoporosis Growth hormone deficiency Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Hypohidrosis Left ventricular hypertrophy Thin skin Osteoarthritis Myocardial infarction Cardiomegaly Cyanosis Convex nasal ridge Nail dysplasia Limitation of joint mobility Hypogonadotrophic hypogonadism Chest pain Hypodontia Thin vermilion border Infertility Narrow chest Carious teeth Hypotrichosis Stroke Sparse hair Hypertrophic cardiomyopathy Carcinoma Osteopenia Macrotia Dyspnea Hypergonadotropic hypogonadism Coxa valga Down-sloping shoulders Premature graying of hair Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Thrombocytosis Alopecia of scalp Short clavicles Renal cell carcinoma Hypoplastic nipples Keratoconjunctivitis sicca Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval High pitched voice Aminoaciduria Multiple joint contractures Heart murmur Abnormality of the thorax Metaphyseal widening Premature ovarian insufficiency Hyperinsulinemia Lipodystrophy Intracranial hemorrhage Nasal speech Dermal atrophy Acanthosis nigricans Hyperlipidemia Atherosclerosis Osteolysis Postaxial hand polydactyly Epileptic spasms Peripheral demyelination Drooling Recurrent ear infections Deep palmar crease Broad face Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Chronic constipation Protruding tongue Broad palm Progressive spastic paraplegia Abnormality of the thyroid gland Impulsivity Abnormality of the outer ear Velopharyngeal insufficiency Lissencephaly Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Otitis media Esotropia Full cheeks Single transverse palmar crease Small hand Nephropathy Short palm Falls Paresthesia Everted upper lip vermilion Excessive daytime sleepiness Hyperlordosis Camptodactyly Hip dysplasia Abnormality of the skin Short foot Polymicrogyria Poor speech Abnormality of the cerebral white matter Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Blepharophimosis Abnormality of the liver Abnormality of the pinna Abnormality of the eye Agenesis of corpus callosum Recurrent aspiration pneumonia Myopathy Visual impairment Muscle weakness Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Midline brain calcifications Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Mood changes Paralysis Cleft lip Abnormal blistering of the skin Elevated alkaline phosphatase Fatal liver failure in infancy Abnormal protein O-linked glycosylation Type II transferrin isoform profile Complex febrile seizures Neonatal sepsis Frontotemporal cerebral atrophy Recurrent infection of the gastrointestinal tract Generalized neonatal hypotonia Intermittent diarrhea Thick hair Diffuse cerebral atrophy Limb hypertonia Abnormality of the coagulation cascade Recurrent upper respiratory tract infections Intellectual disability, mild Shock Chronic diarrhea Sloping forehead Sepsis Hepatic failure Cirrhosis Respiratory tract infection Irritability Muscular hypotonia of the trunk Elevated hepatic transaminase Recurrent respiratory infections Thrombocytopenia Hyperreflexia Abnormal protein N-linked glycosylation Apnea High forehead Prominent nasal tip Inguinal hernia Abnormality of metabolism/homeostasis Corticospinal tract hypoplasia Delayed eruption of primary teeth Large face Taurodontia Abnormality of the ureter Chronic otitis media Tented upper lip vermilion Open mouth Short philtrum Receptive language delay Central sleep apnea Poor fine motor coordination Smooth philtrum Abnormality of the pharynx Speech apraxia Abnormality of chromosome segregation Echolalia Bipolar affective disorder Poor eye contact Oral-pharyngeal dysphagia Language impairment Trigonocephaly Sleep apnea Dental malocclusion Triangular face Hypoplasia of the maxilla Epileptic encephalopathy Tetralogy of Fallot Dandy-Walker malformation Horizontal eyebrow Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Hypoplastic labia minora Congenital talipes calcaneovalgus Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Abnormality of the optic disc Abnormality of the anus Gastric ulcer Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Bilobate gallbladder Aplasia/Hypoplasia involving bones of the feet Biliary tract abnormality Polydactyly Wide intermamillary distance Renal agenesis Webbed neck Premature birth Hypopigmentation of the skin Iris coloboma Postaxial polydactyly Pulmonary hypoplasia Micromelia Finger syndactyly Hypoglycemia Retrognathia Glaucoma Severe short stature Hyperplastic labia majora Cerebellar hypoplasia Microphthalmia Syndactyly Vomiting Intellectual disability, severe Short neck Ptosis Spasticity Agenesis of the anterior commissure Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Abnormality of chromosome stability Abnormal left ventricle morphology Optic disc pallor Abnormal intestine morphology Abnormal heart valve morphology Infantile spasms Macule Polyphagia Hypermelanotic macule Delayed cranial suture closure Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Abnormality of vision Delayed gross motor development Bicuspid aortic valve Leukoencephalopathy Cranial nerve paralysis Spastic tetraparesis Telangiectasia of the skin Narrow palpebral fissure Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Large fontanelles Mitral regurgitation Hypertrichosis Depressed nasal ridge Tetraparesis Ventricular hypertrophy Interphalangeal joint contracture of finger Hypsarrhythmia Absent septum pellucidum Slender long bone Abnormal renal physiology Lower limb asymmetry Colpocephaly Thickened helices Rib fusion Delayed closure of the anterior fontanelle Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Optic nerve coloboma Neuroblastoma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Arnold-Chiari type I malformation Foot polydactyly Spinal canal stenosis Aortic root aneurysm Submucous cleft hard palate Anteriorly placed anus Impaired distal proprioception



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Full cheeks, related diseases and genetic alterations Dysarthria and Dementia, related diseases and genetic alterations Hyperreflexia and Progressive hearing impairment, related diseases and genetic alterations Nystagmus and Generalized seizures, related diseases and genetic alterations Nystagmus and Difficulty walking, related diseases and genetic alterations

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