Macrocephaly, and Hyperlipidemia

Diseases related with Macrocephaly and Hyperlipidemia

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


Top matches:

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 SHASHI-PENA SYNDROME; SHAPNS


Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

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

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Other less relevant matches:

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17


Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Medium match SECKEL SYNDROME 10; SCKL10


Related symptoms:

  • Short stature
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 10; SCKL10

Medium match FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY


NPHS14 is an autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Other infants present with primary adrenal insufficiency. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects (summary by Prasad et al., 2017 and Lovric et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY Is also known as primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to sgpl1 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL STEROID-RESISTANT NEPHROTIC SYNDROME WITH ADRENAL INSUFFICIENCY

Low 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

Low 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

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 BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2


Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, {607364}) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2 Is also known as hypokalemic alkalosis with hypercalciuria 2, antenatal|hyperprostaglandin e syndrome 2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 2, ANTENATAL; BARTS2

Top 5 symptoms//phenotypes associated to Macrocephaly and Hyperlipidemia

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

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Strabismus Hearing impairment Pain Abnormal facial shape Micrognathia Hypercholesterolemia Scoliosis Sensorineural hearing impairment Frontal bossing Epicanthus Retinal detachment Failure to thrive EEG abnormality Ventriculomegaly Hypothyroidism Peripheral neuropathy Delayed speech and language development Growth delay Conductive hearing impairment Cataract Ptosis Clinodactyly of the 5th finger Prominent forehead Hypertelorism Wide nasal bridge Short nose Constipation Midface retrusion Low-set ears Anteverted nares

Rare Symptoms - Less than 30% cases


Hyperacusis Abnormal tracheobronchial morphology Abnormality of metabolism/homeostasis Microtia Delayed puberty Hepatic steatosis Esotropia Polyhydramnios Delayed eruption of teeth Broad-based gait High forehead Acanthosis nigricans Paresthesia Muscular hypotonia Metaphyseal widening Abnormality of the cardiovascular system Synophrys High palate Developmental regression Brachydactyly Primary adrenal insufficiency Adrenal insufficiency Myopia Abnormality of cardiovascular system morphology Obesity Hyporeflexia Upslanted palpebral fissure Brachycephaly Mandibular prognathia Gastroesophageal reflux Pes planus Deeply set eye Clinodactyly Anxiety Edema Cryptorchidism Ataxia Sleep disturbance Microcornea Decreased fetal movement Stereotypy Hoarse voice Self-injurious behavior Impaired pain sensation Aggressive behavior Joint stiffness Cleft palate Osteopenia Hypogonadism Proptosis Malar flattening Osteoporosis Posteriorly rotated ears Kyphosis Behavioral abnormality Abnormality of the skeletal system Feeding difficulties Deep palmar crease Low-set, posteriorly rotated ears Feeding difficulties in infancy Hyperinsulinemia Hypoglycemia Febrile seizures Hypertension Lethargy Abnormality of the nervous system Congestive heart failure Abnormality of the dentition Macrotia Cerebral atrophy Delayed eruption of primary teeth Renal salt wasting Hypomagnesemia Abnormal localization of kidney Large face Abnormality of the ureter Hyperthyroidism Hyperaldosteronism Taurodontia Hyperkalemia Motor delay Polyuria Cerebral cortical atrophy Paralysis Hyperlordosis Abnormality of the kidney Cleft lip Intellectual disability, moderate Hypercalciuria Polydipsia Hyperactivity Corticospinal tract hypoplasia Pes cavus Inguinal hernia Abnormal heart morphology Areflexia Hypoplasia of the corpus callosum Intrauterine growth retardation Hand polydactyly Chronic otitis media Abnormal form of the vertebral bodies Failure to thrive in infancy Fetal polyuria Hypokalemic metabolic alkalosis Hypokalemic alkalosis Hyposthenuria Hypochloremia Renal potassium wasting Increased urinary potassium Hyperactive renin-angiotensin system Hypocalciuria Gait disturbance Hyperchloriduria Hyperprostaglandinuria Increased serum prostaglandin E2 Renal juxtaglomerular cell hypertrophy/hyperplasia Depressed nasal bridge Pseudohypoaldosteronism Attention deficit hyperactivity disorder Precocious puberty Open mouth Tented upper lip vermilion Renal hypoplasia/aplasia Abnormally large globe Aplasia/Hypoplasia of the corpus callosum Alkalosis Chondrocalcinosis Tetany Increased circulating renin level Metabolic alkalosis Cleft upper lip Toe syndactyly Impaired platelet aggregation Neurological speech impairment Broad forehead Short philtrum Dry skin Nephropathy Oral cleft Frequent temper tantrums Dolichocephaly Severe global developmental delay Abnormality of the liver Optic atrophy Hyperreflexia Visual impairment Nystagmus Sleep-wake inversion Head-banging Abnormality of movement Abnormality of the forearm Midline brain calcifications Morphological abnormality of the middle ear Abnormality of upper lip Pelvic kidney Premature atrial contractions Mood changes Recurrent aspiration pneumonia Nephrocalcinosis Retinal dystrophy Everted upper lip vermilion Elevated long chain fatty acids Muscle cramps Small for gestational age Acidosis Triangular face Arrhythmia Diarrhea Vomiting Fever Polar cataract High, narrow palate Premature birth Abnormality of neuronal migration Abnormal palate morphology Dehydration Bilateral single transverse palmar creases Wide anterior fontanel Decreased liver function Abnormality of retinal pigmentation Excessive daytime sleepiness Recurrent ear infections Falls Pachygyria Drooling Abnormality of the outer ear Lissencephaly Increased body weight Abnormal vertebral morphology Sinusitis Hypoplasia of dental enamel Heterotopia Omphalocele Abnormality of the urinary system Otitis media Hypokalemia Full cheeks Macroglossia Single transverse palmar crease Small hand Generalized muscle weakness Short palm Sacral dimple Poor suck Cavum septum pellucidum Chronic constipation Abnormal renal morphology Abnormality of the larynx Ventricular arrhythmia Broad face Thick upper lip vermilion Duodenal atresia Bruxism Short attention span Self-mutilation Impulsivity Overweight Drowsiness Protruding tongue Broad palm Abnormality of the immune system Progressive spastic paraplegia Abnormality of the thyroid gland Open bite Velopharyngeal insufficiency Skin tags Absent testis Decreased body weight Increased bone mineral density Aspiration Aortic valve stenosis Sparse and thin eyebrow Insulin resistance Hypohidrosis Dental crowding Left ventricular hypertrophy Thin skin Hypogonadotrophic hypogonadism Osteoarthritis Myocardial infarction Cardiomegaly Cyanosis Convex nasal ridge Nail dysplasia Growth hormone deficiency Limitation of joint mobility Chest pain Hypergonadotropic hypogonadism Coxa valga Thin vermilion border Multiple joint contractures Hypoplastic nipples Keratoconjunctivitis sicca Thin ribs Scleroderma Lipoatrophy Exertional dyspnea Prolonged QT interval Premature graying of hair High pitched voice Heart murmur Aminoaciduria Abnormality of the thorax Premature ovarian insufficiency Lipodystrophy Intracranial hemorrhage Nasal speech Dermal atrophy Relative macrocephaly Atherosclerosis Osteolysis Hypodontia Infertility Short clavicles Eruptive xanthomas Highly arched eyebrow Long face Poor speech Autistic behavior Elevated hepatic transaminase Retrognathia Atrial septal defect Increased circulating chylomicron concentration Lipemia retinalis Epigastric pain Broad nasal tip Chronic pancreatitis Hyperlipoproteinemia Episodic abdominal pain Pancreatitis Hepatosplenomegaly Abdominal pain Encephalopathy Splenomegaly Hepatomegaly Recurrent fractures Nevus Narrow chest Dyspnea Carious teeth Hypotrichosis Hypermetropia Dilated cardiomyopathy Hip dislocation Stroke Sparse hair Hypertrophic cardiomyopathy Carcinoma Narrow mouth Cafe-au-lait spot Dementia Alopecia Cardiomyopathy Skeletal muscle atrophy Flexion contracture Neoplasm Nevus flammeus Reduced bone mineral density Accelerated skeletal maturation Renal cell carcinoma Alopecia of scalp Congenital nephrotic syndrome Ventricular hypertrophy Elevated circulating luteinizing hormone level Elevated circulating follicle stimulating hormone level Insulin-resistant diabetes mellitus Slender long bone Glycosuria Glucose intolerance Cone-shaped epiphysis Aortic aneurysm Microretrognathia Diabetes mellitus Abdominal aortic aneurysm Severe short stature Dilatation Dysplastic corpus callosum Incoordination Finger clinodactyly Generalized myoclonic seizures Hirsutism Autism Tapering pointed ends of distal finger phalanges Acute pancreatitis Elevated serum aspartate aminotransferase Regional abnormality of skin Lymphopenia Steroid-resistant nephrotic syndrome Diffuse mesangial sclerosis Primary hypothyroidism Focal segmental glomerulosclerosis Focal impaired awareness seizure Glomerulosclerosis Hypoalbuminemia Recurrent bacterial infections Hypocalcemia Epidermal acanthosis Elevated serum alanine aminotransferase Nephrotic syndrome Focal-onset seizure Stage 5 chronic kidney disease Ichthyosis Retinopathy Mental deterioration Proteinuria Micropenis Immunodeficiency Arteriosclerosis of small cerebral arteries Abnormal trabecular bone morphology Thrombocytosis Lack of skin elasticity Carcinoid tumor Prolonged prothrombin time Decreased serum estradiol Thin bony cortex Enlarged joints Precocious atherosclerosis Aplasia/Hypoplasia of the earlobes Small face Generalized osteoporosis Angina pectoris Narrow nasal ridge Prominent superficial veins Osteolytic defects of the phalanges of the hand Ovoid vertebral bodies Hyperphosphatemia Down-sloping shoulders Fragile nails Transient ischemic attack Absent eyelashes Abnormal EKG Arteriosclerosis Aplastic clavicle Insulin-resistant diabetes mellitus at puberty Bird-like facies Absence of pubertal development Carotid artery stenosis Narrow nasal tip Bilateral coxa valga Craniofacial disproportion Old-aged sensorineural hearing impairment Reticulated skin pigmentation Hypoplastic facial bones Prominent scalp veins Mitral valve calcification Hip pain 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 Low-to-normal blood pressure



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