Micrognathia, and Hepatosplenomegaly

Diseases related with Micrognathia and Hepatosplenomegaly

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

Top matches:

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

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

Other less relevant matches:

High match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

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

High match COG7-CDG

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER); PBD5A

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

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Top 5 symptoms//phenotypes associated to Micrognathia and Hepatosplenomegaly

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Generalized hypotonia Malar flattening Low-set ears High forehead Anemia Jaundice Respiratory insufficiency Abnormality of the liver Dehydration Elevated hepatic transaminase Abnormal facial shape Failure to thrive Brachydactyly Abnormality of the fingernails Thrombocytopenia Midface retrusion Skeletal dysplasia Areflexia Microcephaly Hypertrophic cardiomyopathy Craniosynostosis High palate Macrocephaly Prominent forehead

Rare Symptoms - Less than 30% cases

Abnormal pelvis bone ossification Petechiae Extramedullary hematopoiesis Lethal skeletal dysplasia Decreased skull ossification Clitoral hypertrophy Growth delay Hirsutism Fever Diarrhea Recurrent infections Delayed speech and language development Abnormal heart morphology Depressed nasal bridge Hypertension Flat face Abnormality of immune system physiology Narrow chest Frontal bossing Proptosis Lymphedema Hypoplasia of the maxilla Abnormality of the skeletal system Nonimmune hydrops fetalis Large fontanelles Osteomyelitis Downslanted palpebral fissures Epiphyseal stippling Cerebral cortical atrophy Cerebral atrophy Edema Cardiomyopathy Intrauterine growth retardation Muscular hypotonia Carious teeth Visual impairment Cholestasis Opacification of the corneal stroma Cataract Abnormal lung morphology Polymicrogyria Portal hypertension Intellectual disability, severe Chronic lung disease Renal insufficiency Skin rash Recurrent pneumonia Pulmonary hypoplasia Congestive heart failure Renal cyst Depressed nasal ridge Microretrognathia Papule Intrahepatic biliary dysgenesis Erythema Obesity Hyperkeratosis Abnormality of metabolism/homeostasis Recurrent respiratory infections Brushfield spots Stippled chondral calcification Pruritus Dry skin Genu valgum Inflammatory abnormality of the skin Generalized neonatal hypotonia Low anterior hairline Skin ulcer Optic nerve dysplasia Macrogyria Abnormality of retinal pigmentation Thin skin Cutaneous photosensitivity Renal cortical microcysts Low posterior hairline Hepatitis Convex nasal ridge Asthma Palmoplantar keratoderma Short nose Arachnodactyly Nystagmus Generalized tonic-clonic seizures Intellectual disability, mild Microphthalmia Sloping forehead Cerebral calcification Hypertonia Neuronal loss in central nervous system Long philtrum Sternal punctate calcifications Cerebellar hypoplasia Intellectual disability, profound Gliosis Micropenis Muscular hypotonia of the trunk Corneal opacity Tetraplegia Abnormality of movement Anteverted nares Bilateral single transverse palmar creases Spasticity Lissencephaly Congenital cataract Vomiting Ptosis Hearing impairment Congenital microcephaly Increased CSF protein Hyperreflexia Tetraparesis Ventriculomegaly Spastic tetraparesis Purpura Cerebral visual impairment Decreased liver function Postnatal microcephaly Pachygyria Status epilepticus Hypoplasia of the zygomatic bone Generalized hirsutism Postaxial foot polydactyly Ulnar deviation of the hand 11 pairs of ribs Large forehead Hypoplastic fingernail Misalignment of teeth Calvarial skull defect Preeclampsia Barrel-shaped chest Abnormal lung lobation Diaphyseal thickening Abnormal joint morphology Abnormal foot bone ossification Punctate vertebral calcifications Abnormality of the calcaneus Tracheal calcification Laryngeal calcification Broad palm Abnormality of the vertebral spinous processes Metaphyseal cupping Ectopic calcification Narrow nasal bridge Hepatic calcification Absent or minimally ossified vertebral bodies Horizontal sacrum Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Abnormal leukocyte morphology Severe hydrops fetalis Long clavicles Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Absent toenail Vertebral hypoplasia Sclerosis of skull base Hypoplastic vertebral bodies Pancreatic islet-cell hyperplasia Cystic hygroma Mesomelia Reduced bone mineral density Concave nasal ridge Severe short stature Recurrent cystitis Diffuse telangiectasia Crusting erythematous dermatitis Facial hirsutism Poliosis Abnormality of the middle ear White forelock Short diaphyses Abnormal ossification involving the femoral head and neck Prolonged neonatal jaundice Abnormality of the immune system Anterior rib punctate calcifications Aplasia/Hypoplasia of the skin Abnormality of the hip bone Elevated erythrocyte sedimentation rate Increased antibody level in blood Psoriasiform dermatitis Systemic lupus erythematosus Polydactyly Polyhydramnios Thoracic hypoplasia Short phalanx of finger Flared metaphysis Pleural effusion Disproportionate short-limb short stature Sandal gap Bone marrow hypocellularity Short ribs Hydrops fetalis Rhizomelia Bowing of the long bones Supernumerary vertebral ossification centers Omphalocele Abnormal form of the vertebral bodies Cardiomegaly Postaxial hand polydactyly Limb undergrowth Intestinal malrotation Postaxial polydactyly Micromelia Platyspondyly Abnormality of the helix Short neck Palpebral edema Natal tooth Abnormality of the lower limb Congenital stationary night blindness Abnormally large globe Coronal craniosynostosis Bell-shaped thorax Megalocornea Short clavicles Bowing of the legs Hypoplastic pubic bone Abnormality of the outer ear Short chin Gingival overgrowth Osteopenia Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Hypoplastic ischia Decreased calvarial ossification Potter facies Hepatic failure Budd-Chiari syndrome Abnormality of the amniotic fluid Type I transferrin isoform profile Abnormality of coagulation Nephrotic syndrome Ascites Nephropathy Thin vermilion border Overfolding of the superior helices Hypogonadism Cerebellar atrophy Blindness Flexion contracture Abnormality of the periosteum Incomplete ossification of pubis Steep acetabular roof Metopic depression Periportal fibrosis Hematemesis Scoliosis Stereotypy Respiratory failure Dilatation Atrial septal defect Respiratory distress Ventricular septal defect Scaphocephaly Finger clinodactyly Broad nasal tip Low-set, posteriorly rotated ears Aggressive behavior Anxiety Retrognathia Mandibular prognathia Pneumonia Clinodactyly of the 5th finger Clinodactyly Wide nasal bridge Macrotia Abnormality of the kidney Hypersplenism Esophageal varix Portal fibrosis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Cholangitis Atelectasis Scarring Multiple renal cysts Enlarged kidney Polycystic kidney dysplasia Chronic kidney disease Renal hypoplasia/aplasia Hepatic fibrosis Oligohydramnios Stage 5 chronic kidney disease Short stature Pain Metatarsus adductus Osteolytic defects of the distal phalanges of the hand Thick vermilion border Arthrogryposis multiplex congenita Abnormality of the pinna Proteinuria Behavioral abnormality Feeding difficulties Persistent open anterior fontanelle Spondylolysis Delayed myelination Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Polyneuropathy Adducted thumb Ridged nail Talipes equinovarus Cubitus valgus Poor suck Pigmentary retinopathy Round face Single transverse palmar crease Feeding difficulties in infancy Camptodactyly Epicanthus Protruding tongue Cryptorchidism Cleft palate Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Small face Spondylolisthesis Cognitive impairment Recurrent fractures Small nail Blue sclerae Abnormality of the skin Growth hormone deficiency Prominent nose Hypodontia Postural instability Delayed eruption of teeth Abnormality of epiphysis morphology Short distal phalanx of finger Hyperlordosis Apnea Brachycephaly Osteoporosis Kyphosis Abnormality of the dentition Hydrocephalus Abnormality of the face Abnormal vertebral morphology Osteolytic defects of the phalanges of the hand Back pain Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Abnormality of dental morphology Abnormality of the thorax Increased susceptibility to fractures Bone pain Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Narrow palate Wormian bones Abnormality of the nail Increased bone mineral density Short toe Patchy variation in bone mineral density


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