Macrocephaly, and Hepatosplenomegaly

Diseases related with Macrocephaly and Hepatosplenomegaly

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

Top matches:

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

A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Neoplasm
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MACROCEPHALY-INTELLECTUAL DISABILITY-AUTISM SYNDROME

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Other less relevant matches:

Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome is a rare, genetic, central nervous system malformation syndrome characterized by early-onset, progressive, severe cerebellar ataxia associated with progressive, moderate to severe intellecutal disability, global developmental delay, progressively coarsening facial features, relative macrocephaly and absence of seizures. Sensorineural hearing loss may be associated. Neuroimaging reveals cerebellar atrophy/hypoplasia.

INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME Is also known as intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome|scar20|autosomal recessive spinocerebellar ataxia type 20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-COARSE FACE-MACROCEPHALY-CEREBELLAR HYPOTROPHY SYNDROME

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Top 5 symptoms//phenotypes associated to Macrocephaly and Hepatosplenomegaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases
Prominent forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Brachydactyly Seizures Scoliosis Anemia Pain Hydrocephalus High palate Long philtrum Short stature Abnormal facial shape Epicanthus Generalized hypotonia Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Downslanted palpebral fissures Sleep apnea Wide nasal bridge Delayed speech and language development Proptosis Spasticity Craniosynostosis Ataxia Nystagmus Absent speech Cognitive impairment Inability to walk Macroglossia Delayed eruption of teeth Coarse facial features Sensorineural hearing impairment Hearing impairment Increased head circumference Clinodactyly Osteopetrosis Hypertelorism Fever Hypodontia Midface retrusion Depressed nasal bridge Pneumonia Small nail Autistic behavior Attention deficit hyperactivity disorder Abdominal pain Low-set ears Lymphadenopathy Cerebral atrophy Narrow chest Episodic abdominal pain Hyperactivity Inguinal hernia Intellectual disability, mild Abnormality of metabolism/homeostasis Syndactyly Patent ductus arteriosus Polydactyly Thin upper lip vermilion Synophrys Respiratory distress Elevated hepatic transaminase Developmental regression Hypoplasia of the epiglottis Smooth philtrum Joint hypermobility High, narrow palate Memory impairment Low posterior hairline Respiratory insufficiency Hoarse voice Generalized hirsutism Partial atrioventricular canal defect Cutaneous syndactyly Polyhydramnios Spinal canal stenosis Horseshoe kidney Mesomelia Atrioventricular canal defect Metaphyseal dysplasia Short ribs Coarctation of aorta Hamartoma Postaxial hand polydactyly Increased number of teeth Limb undergrowth Nail dysplasia Short clavicles Hydrometrocolpos Median cleft lip Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Postaxial polydactyly Accessory oral frenulum Cleft upper lip Cone-shaped epiphysis Bilateral postaxial polydactyly Cleft lip Oral cleft Malar flattening Hyperkinesis Agenesis of permanent teeth Short toe Increased bone mineral density Abnormality of the nail Wormian bones Narrow palate Abnormality of the fingernails Osteolysis Abnormality of pelvic girdle bone morphology Increased susceptibility to fractures Back pain Abnormality of the thorax Abnormality of dental morphology Osteomyelitis Prominent occiput Abnormality of the vertebral column Abnormal vertebral morphology Delayed eruption of permanent teeth Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Persistence of primary teeth Abnormality of the clavicle Abnormal pattern of respiration Low back pain Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Bone pain Abnormality of epiphysis morphology Cholelithiasis Periorbital fullness Micrognathia Expressive language delay Spinal deformities Long hallux Prolonged prothrombin time Abnormality of the mitochondrion Prolonged partial thromboplastin time Abnormality of the dentition Upper airway obstruction Dysostosis multiplex Protuberant abdomen Hypoplastic nipples Thoracic hypoplasia 2-3 toe syndactyly Abnormality of the skeletal system Kyphosis Abnormality of the face Recurrent fractures Blue sclerae Abnormality of the skin Growth hormone deficiency Prominent nose Hypoplasia of the maxilla Postural instability Short distal phalanx of finger Retrobulbar optic neuritis Carious teeth Hyperlordosis Apnea High forehead Brachycephaly Osteoporosis Abnormal granulocyte morphology Papule Pseudopapilledema Delayed myelination Recurrent pneumonia Finger clinodactyly Microretrognathia Scaphocephaly Microcephaly Cataract Hyperreflexia Hypertonia Macrotia Jaundice Spastic paraplegia Paraplegia Hemolytic anemia Hyperbilirubinemia Broad nasal tip Hyperkalemia Broad neck Conjugated hyperbilirubinemia Stomatocytosis Hemoglobinuria Zonular cataract Hypoglycorrhachia Failure to thrive Strabismus Feeding difficulties Optic atrophy Gait disturbance Hypoplasia of the corpus callosum Stereotypy Aggressive behavior Thrombocytopenia Short nose Encephalopathy Abnormality of the nervous system Lethargy Hypertriglyceridemia Pancreatitis Hypercholesterolemia Hyperlipoproteinemia Chronic pancreatitis Epigastric pain Eruptive xanthomas Lipemia retinalis Increased circulating chylomicron concentration Neoplasm Immunodeficiency Anxiety Recurrent infections Obesity Autism Broad forehead Decreased antibody level in blood Pancytopenia Lymphopenia Combined immunodeficiency Biparietal narrowing Severe combined immunodeficiency Postnatal macrocephaly Clinodactyly of the 5th finger Mandibular prognathia Retrognathia Vomiting Facial palsy Abnormality of neutrophils Increased intracranial pressure Arthralgia EEG abnormality Myalgia Arthritis Skin rash Nausea and vomiting Migraine Premature birth Overgrowth Meningitis Vasculitis Joint dislocation Purpura Reduced bone mineral density Edema Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Arthropathy Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Blindness Fatigue Irritability Cerebral cortical atrophy Triangular face Brain atrophy Short chin Leukopenia Short femoral neck Uncontrolled eye movements Increased density of long bones Talipes equinovarus Anteverted nares Cerebellar atrophy Hyporeflexia Babinski sign Cerebellar hypoplasia Kyphoscoliosis Visual impairment Camptodactyly Abnormality of the cerebral white matter Talipes Thick vermilion border Neuronal loss in central nervous system Apraxia Short palpebral fissure Hypertrichosis Dental crowding Relative macrocephaly Broad face Broad philtrum Wide nasal base Growth delay Abnormal pelvis bone ossification


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Lissencephaly, related diseases and genetic alterations Optic atrophy and Muscular dystrophy, related diseases and genetic alterations