Anemia, and Overgrowth

Diseases related with Anemia and Overgrowth

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


Top matches:

Medium 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

Medium match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

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Other less relevant matches:

Medium match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Low match ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Low match KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Top 5 symptoms//phenotypes associated to Anemia and Overgrowth

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Hearing impairment Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Overgrowth. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases


Seizures Short stature Generalized hypotonia Hyperreflexia Anteverted nares Hypertelorism Microcephaly Ptosis Depressed nasal bridge Splenomegaly Scoliosis Apnea Fever Edema Recurrent fractures Cerebral atrophy Gingival overgrowth Osteoporosis Cardiomyopathy Gliosis Abnormality of the skeletal system Developmental regression Patent ductus arteriosus Atrial septal defect Epidermal acanthosis Hydrocephalus Hypertension Hernia Delayed speech and language development Flexion contracture Pain Neoplasm Visual loss Recurrent infections Venous thrombosis Blindness Hepatosplenomegaly Arthralgia Growth delay Sensorineural hearing impairment Skeletal dysplasia Brachydactyly Proptosis Frontal bossing

Rare Symptoms - Less than 30% cases


Mitral valve prolapse Leukemia Confusion Lymphoma Macroorchidism Sleep apnea Abnormal form of the vertebral bodies Weight loss Back pain Tibial bowing Spinal canal stenosis Spinal cord compression Communicating hydrocephalus Chronic myelogenous leukemia Hydrops fetalis Conductive hearing impairment Pulmonary embolism Severe short stature Obesity Malar flattening Hemangioma Ventriculomegaly Ascites Motor delay Lower limb asymmetry Upper limb asymmetry Arterial fibromuscular dysplasia Cor pulmonale Epiphyseal dysplasia Redundant skin Recurrent urinary tract infections Bilateral sensorineural hearing impairment Spasticity Short neck Gastrointestinal hemorrhage Multiple cafe-au-lait spots Cognitive impairment Respiratory insufficiency Delayed skeletal maturation Behavioral abnormality Intellectual disability, mild Neoplasm of the central nervous system Meningioma Headache Hyperkeratosis Abnormality of cardiovascular system morphology Neurofibromas Abnormal heart morphology Hyperactivity Kyphoscoliosis Malabsorption Facial asymmetry Abnormality of skin pigmentation Widely spaced teeth Aspiration Kyphosis Nystagmus Long philtrum Cataract Pneumonia Posteriorly rotated ears Myoclonus Micropenis Coarse facial features Wide mouth Ichthyosis Lipodystrophy Varicose veins Wide nose Generalized myoclonic seizures Microcytic anemia Hallux valgus Neuronal loss in central nervous system Hypsarrhythmia Tall stature Vesicoureteral reflux Glaucoma Full cheeks Failure to thrive Inguinal hernia Dilatation Congestive heart failure Leukocytosis Visual impairment Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Lymphadenopathy Hypothyroidism Immunodeficiency Encephalopathy Arrhythmia Constipation Decreased antibody level in blood Neutropenia Hypoglycemia Muscular hypotonia of the trunk Recurrent respiratory infections Stroke Reduced bone mineral density Joint laxity Joint hyperflexibility Pulmonic stenosis Hip dislocation Hemolytic anemia Bilateral camptodactyly Upper eyelid edema Retroperitoneal fibrosis Ataxia Seborrheic keratosis Stiff skin Migraine Muscular hypotonia Gait disturbance Intellectual disability, severe Diarrhea Cervical lymphadenopathy Episcleritis Snoring Abnormality of metabolism/homeostasis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Cerebral artery stenosis Reticulocytopenia Histiocytosis Nausea and vomiting Spinal neurofibromas Brachycephaly Progressive neurologic deterioration Muscle fibrillation Pathologic fracture Emotional lability Acne Intellectual disability, progressive Neurofibrosarcoma Hoarse voice Optic nerve glioma Subcutaneous neurofibromas Skin rash Chronic diarrhea Involuntary movements Mitral regurgitation Acute promyelocytic leukemia Gait ataxia Thick lower lip vermilion Psychosis Macroglossia Plexiform neurofibroma Papule Platyspondyly Nyctalopia Erythema Inguinal freckling Mental deterioration Hydronephrosis High forehead Nasal obstruction Skin nodule Decreased serum testosterone level Recurrent pharyngitis Epicanthus Cardiomegaly Amenorrhea Decreased testicular size Wide intermamillary distance Tibial pseudoarthrosis Growth hormone deficiency Polyneuropathy Flat face Cleft upper lip Abnormality of the foot Delayed puberty Brow ptosis Hypotrichosis Wide nasal bridge Blue sclerae Pectus carinatum Retinopathy Ventricular septal defect Clinodactyly Abnormal cardiac septum morphology Abnormality of the kidney Camptodactyly Low-set, posteriorly rotated ears Pes planus Dyspnea Increased intracranial pressure Diabetes mellitus Hypogonadism Epistaxis Hypertriglyceridemia Alopecia Hyperglycemia Premature birth Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Lipoatrophy Thickened calvaria Increased antibody level in blood Vasculitis Stridor Hypertrichosis Psoriasiform dermatitis Joint dislocation Azoospermia Plagiocephaly Osteolysis Type I diabetes mellitus Elbow flexion contracture Hypergonadotropic hypogonadism Purpura Gynecomastia Hyperpigmentation of the skin Telangiectasia Bronchiectasis Primary amenorrhea Meningitis Abnormality of the ovary Palpebral edema Anisocytosis Venous malformation Generalized hyperkeratosis Thrombophlebitis Vascular skin abnormality Asymmetry of the thorax Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Hemihypertrophy Nephrogenic diabetes insipidus Exostoses Generalized hyperpigmentation EEG abnormality Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Lipoma Papilledema Abnormality of the neck Capillary hemangioma Abnormality of finger Abnormality of the wrist Deep venous thrombosis Arteriovenous malformation Fatigue Epibulbar dermoid Keloids Hamartoma Abnormality of the skull Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Hematuria Prolonged bleeding time Cellulitis Hypercoagulability Central heterochromia Venous insufficiency Abnormality of the pulmonary artery Abnormality of the menstrual cycle Abnormal tricuspid valve morphology Internal hemorrhage Peripheral arteriovenous fistula Connective tissue nevi Neoplasm of the thymus Testicular neoplasm Sirenomelia Lymphangioma Epidermal nevus Metatarsus valgus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Narrow internal auditory canal Abnormal subcutaneous fat tissue distribution Facial hyperostosis Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Retinal nonattachment Ovarian neoplasm Multiple lipomas Dysostosis multiplex Angiofibromas Craniosynostosis Joint stiffness Intellectual disability, moderate Carcinoma Macrotia Abdominal pain Clinodactyly of the 5th finger Syndactyly Downslanted palpebral fissures Optic atrophy Myopia Low-set ears Strabismus Aspartylglucosaminuria Oligosacchariduria Dolichocephaly Vacuolated lymphocytes Beaking of vertebral bodies Arthritis Broad face Spondylolisthesis Vestibular Schwannoma Visceromegaly Facial edema Spondylolysis Adenoma sebaceum Hypoplastic frontal sinuses Cranial asymmetry Angiokeratoma Methemoglobinemia Angiokeratoma corporis diffusum Finger syndactyly Carious teeth Pericardial effusion Growth abnormality Abnormality of dental enamel Myalgia Abnormality of the metacarpal bones Goiter Palmoplantar hyperkeratosis Reduced number of teeth Cachexia Abnormality of the nail Chorioretinal coloboma Melanocytic nevus Hyperostosis Diabetes insipidus Decreased muscle mass Disproportionate tall stature Generalized hirsutism Lymphopenia Long face High myopia Polymicrogyria Renal cyst Abdominal distention Sudden cardiac death Nevus Round face Open mouth Abnormal vertebral morphology Heterotopia Subcutaneous nodule Thickened skin Abnormality of retinal pigmentation Lymphedema Sinusitis Neuroma Gastrointestinal stroma tumor Embryonal rhabdomyosarcoma Poor appetite Myelopathy Hypoxemia Multiple epiphyseal dysplasia Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Ischemic stroke Generalized joint laxity Osteopetrosis Megalencephaly Abnormality of immune system physiology Obstructive sleep apnea Abnormality of the elbow Hip contracture Thoracolumbar kyphosis Neuroblastoma Disproportionate short stature Myeloid leukemia Limb hypertonia Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Ketosis Genu varum Abnormality of pelvic girdle bone morphology Tinnitus Recurrent ear infections Hyperammonemia Short long bone Micrognathia Metabolic acidosis Cerebellar hypoplasia Coma Absent speech Aciduria Short nose Cerebellar atrophy Dehydration Hypoplasia of the corpus callosum Eczema Pancytopenia High palate Pancreatitis Cleft palate Tachypnea Neonatal short-limb short stature Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Disproportionate short-limb short stature Infantile muscular hypotonia Cerebral cortical atrophy Bladder diverticulum Cryptorchidism Respiratory distress Hypospadias Pectus excavatum Renal diverticulum Bowel diverticulosis Umbilical hernia Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Ileus Atelectasis Intolerance to protein Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Prematurely aged appearance Delayed cranial suture closure Emphysema Aortic aneurysm Shock Cutis laxa Wormian bones Abnormality of the face Arachnodactyly Congenital diaphragmatic hernia Oligohydramnios Propionicacidemia Propionyl-CoA carboxylase deficiency Ketoacidosis Methylmalonic aciduria Acanthosis nigricans Paraparesis Clonus Short toe Rhizomelia Abnormal lung morphology Abnormality of the metaphysis Ketonuria Recurrent otitis media Osteoarthritis Tetraparesis Organic aciduria Lumbar hyperlordosis Otitis media Sleep disturbance Midface retrusion Oral cleft Episodic vomiting Micromelia Hyperglycinemia Scarring Hyperlordosis Cleft lip Abnormality of the nervous system Acute encephalopathy Rigidity Gastroesophageal reflux Hyperglycinuria Cerebellar hemorrhage Increased level of hippuric acid in urine Upslanted palpebral fissure Respiratory failure Axillary freckling Cafe-au-lait spot Freckling Pulmonary fibrosis Hypophosphatemia Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Sarcoma Incoordination Breast carcinoma Abnormal joint morphology Atherosclerosis Spina bifida Sensorimotor neuropathy Bone pain Aganglionic megacolon Renal cell carcinoma Coarctation of aorta Arthropathy Abnormality of the cardiovascular system Tetralogy of Fallot Specific learning disability Amyloidosis Uveitis Peripheral axonal neuropathy Paresthesia Juvenile rheumatoid arthritis Genu valgum Abnormal thrombocyte morphology Pruritus Attention deficit hyperactivity disorder Osteomalacia Severe vision loss Autistic behavior Nasolacrimal duct obstruction Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Leiomyosarcoma Fibular bowing Urticaria Lisch nodules Renal phosphate wasting Schwannoma Glioma Rhabdomyosarcoma Overweight Carcinoid tumor Paraganglioma Night sweats Anomalous pulmonary venous return Complete atrioventricular canal defect Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Astrocytoma Brain neoplasm Myocardial fibrosis Neoplasm of the endocrine system Gangrene Increased reactive oxygen species production Paralysis Hypertrophic cardiomyopathy Lactic acidosis Webbed neck Scaling skin Elevated alkaline phosphatase Deep philtrum Multicystic kidney dysplasia Cerebral visual impairment Thrombocytopenia Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Small nail Generalized-onset seizure Limb undergrowth Microdontia Epileptic encephalopathy Delayed myelination Large for gestational age Acidosis Sepsis Downturned corners of mouth Short distal phalanx of finger Hepatic failure Cirrhosis Feeding difficulties in infancy Abnormality of eye movement Abnormality of the eye Neonatal hypotonia Lethargy Retrognathia Polyhydramnios Narrow mouth Overfolded helix Prominent occiput Osteopenia Abnormality of the pons Delayed closure of the anterior fontanelle Autism Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Depressivity Retrobulbar optic neuritis Abnormal granulocyte morphology Feeding difficulties Vomiting Dysarthria Peripheral neuropathy Dystonia Birth length greater than 97th percentile Infantile spasms Developmental stagnation Absent septum pellucidum Central hypotonia Epileptic spasms Pierre-Robin sequence Cardiorespiratory arrest High anterior hairline Breech presentation Olfactory lobe agenesis Seborrheic dermatitis Hemoglobinuria Duplicated collecting system Micronodular cirrhosis Triangular mouth Alveolar ridge overgrowth Abnormality of skeletal morphology



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 Talipes equinovarus, related diseases and genetic alterations Hyperreflexia and Nail dysplasia, related diseases and genetic alterations High palate and Tall stature, related diseases and genetic alterations Peripheral neuropathy and EEG abnormality, related diseases and genetic alterations Breast carcinoma and Telangiectasia, related diseases and genetic alterations

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