Anemia, and Round face

Diseases related with Anemia and Round face

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


Top matches:

Medium match AARSKOG-SCOTT SYNDROME; AAS


Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2


PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2 Is also known as cushing syndrome, adrenal, due to ppnad2|pigmented micronodular adrenocortical disease, primary, 2

Related symptoms:

  • Hypertension
  • Kyphosis
  • Depressivity
  • Osteoporosis
  • Osteopenia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2; PPNAD2

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Other less relevant matches:

Low match BLOOD GROUP, SS; SS


Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

Related symptoms:

  • Neoplasm
  • Anemia


SOURCES: OMIM MENDELIAN

More info about BLOOD GROUP, SS; SS

Low match PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1


Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Low match ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2


ACTH-independent macronodular adrenal hyperplasia-2 is an autosomal dominant tumor susceptibility with syndromic incomplete penetrance, as a second hit to the ARMC5 gene is required to develop macronodular hyperplasia (Assie et al., 2013).

ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2 Is also known as primary macronodular adrenal hyperplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Depressivity
  • Osteoporosis
  • Round face


SOURCES: OMIM MENDELIAN

More info about ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2; AIMAH2

Low match DISTAL MONOSOMY 1Q


1qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.

DISTAL MONOSOMY 1Q Is also known as telomeric deletion 1q|distal deletion 1q|monosomy 1qter

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about DISTAL MONOSOMY 1Q

Low match NEURALGIC AMYOTROPHY


Neuralgic amyotrophy (NA) is an uncommon disorder of the peripheral nervous system characterized by the sudden onset of extreme pain in the upper extremity followed by rapid multifocal motor weakness and atrophy and a slow recovery in months to years. NA includes both an idiopathic (INA, also known as Parsonage-Turner syndrome) and hereditary (HNA) form.

NEURALGIC AMYOTROPHY Is also known as mononeuritis multiplex with brachial predilection|acute brachial plexus neuritis|immune brachial plexus neuropathy|brachial plexus neuritis|neuralgic shoulder amyotrophy

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about NEURALGIC AMYOTROPHY

Low match ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME


Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.

ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME Is also known as morava-mehes syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Brachydactyly
  • Frontal bossing
  • Talipes equinovarus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR/FIBULA RAY DEFECT-BRACHYDACTYLY SYNDROME

Low match IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2


Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011).For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2; ICF2

Top 5 symptoms//phenotypes associated to Anemia and Round face

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Increased circulating cortisol level Depressed nasal bridge Kyphosis Low-set ears Anteverted nares Adrenal hyperplasia Osteoporosis Pain Seizures Global developmental delay

Rare Symptoms - Less than 30% cases


Short 5th finger Primary hypercortisolism Pigmented micronodular adrenocortical disease Mood changes Epicanthus Decreased circulating ACTH level Prominent forehead Lymphedema Paradoxical increased cortisol secretion on dexamethasone suppression test Immunodeficiency Striae distensae Truncal obesity Agitation Polymicrogyria Thin skin Recurrent infections Psychosis Bruising susceptibility Mental deterioration Anxiety Osteopenia Carcinoma Decreased antibody level in blood Hemangioma Lower limb asymmetry Short foot Abnormal facial shape Downslanted palpebral fissures Syndactyly Abdominal pain Scoliosis Brachydactyly Obesity Strabismus Growth delay Cleft palate Ptosis Short nose Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Testicular neoplasm Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Scapular winging Lymphangioma Epidermal nevus Metatarsus valgus Calvarial hyperostosis Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Retinal hamartoma Generalized hyperkeratosis Vascular skin abnormality Thrombophlebitis Abnormality of the neck Lipoma Exostoses Papilledema Capillary hemangioma Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Meningioma Deep venous thrombosis Varicose veins Arteriovenous malformation Hemihypertrophy Retinal nonattachment Agammaglobulinemia Anisocytosis Arterial thrombosis Buphthalmos Myofibrillar myopathy Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Asymmetric growth Asymmetry of the thorax Bronchogenic cyst Connective tissue nevi Abnormal subcutaneous fat tissue distribution Peripheral neuropathy Macronodular adrenal hyperplasia Microcephaly Malar flattening Micrognathia Atrial septal defect Talipes equinovarus Smooth philtrum Thin vermilion border Aplasia/Hypoplasia of the corpus callosum Muscle weakness Skeletal muscle atrophy Hyperglycemia Respiratory insufficiency Frontal bossing Narrow mouth Arthralgia Paralysis Neurological speech impairment Paresthesia Acrocyanosis Sleep disturbance Sprengel anomaly Polyneuropathy Abdominal obesity Moon facies Neoplasm of the thymus Motor delay Central heterochromia Short chin EMG abnormality Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Everted lower lip vermilion Respiratory tract infection Retrognathia Recurrent respiratory infections Pneumonia High palate Adrenocortical carcinoma Unilateral ulnar hypoplasia Postaxial oligodactyly Aplasia/Hypoplasia of the fibula Aplasia/Hypoplasia of the ulna Abnormal lung lobation Fibular hypoplasia Bilateral talipes equinovarus Toe syndactyly Midface retrusion Cerebral cortical atrophy Hypertrichosis Neoplasm of the lung Lipodystrophy Irregular hyperpigmentation Volvulus Abnormality of the genital system Increased intracranial pressure Radial deviation of finger Mild short stature Interstitial pulmonary abnormality Broad palm Macrocytic anemia Shawl scrotum Hypoplasia of the odontoid process Broad foot Genu recurvatum Widow's peak Large earlobe Broad philtrum Hypoplasia of the maxilla Hyperextensibility of the finger joints Osteochondritis Dissecans Frontoparietal polymicrogyria Prominent umbilicus Increased upper to lower segment ratio Curved linear dimple below the lower lip Cervical spine hypermobility Nystagmus Cataract Myopia Fever Macrocephaly Optic atrophy Generalized-onset seizure Hypodontia Headache Inguinal hernia Failure to thrive Cryptorchidism Flexion contracture Hepatomegaly Wide nasal bridge Ventricular septal defect Short neck Behavioral abnormality Intellectual disability, mild Hernia Pectus excavatum Clinodactyly Abnormal heart morphology Alopecia Single transverse palmar crease Hyperactivity Umbilical hernia Pes planus Joint laxity Camptodactyly Attention deficit hyperactivity disorder Hypermetropia Pulmonic stenosis Delayed puberty Cleft upper lip Cirrhosis Joint hypermobility Short palm Splenomegaly Abnormality of cardiovascular system morphology Spinal canal stenosis Chorioretinal coloboma Sinusitis Abnormal vertebral morphology Lymphopenia Abnormality of the nail Generalized hirsutism Abnormality of dental enamel Venous thrombosis Abnormality of the metacarpal bones Goiter Palmoplantar hyperkeratosis Reduced number of teeth Growth abnormality Cachexia Melanocytic nevus Thickened skin Hyperostosis Diabetes insipidus Decreased muscle mass Hallux valgus Disproportionate tall stature Pericardial effusion Neurofibromas Multiple lipomas Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Generalized hyperpigmentation Pulmonary embolism Abnormality of retinal pigmentation Subcutaneous nodule Visual loss Dolichocephaly Clinodactyly of the 5th finger Constipation Glaucoma Hyperkeratosis Proptosis Macrotia Kyphoscoliosis Skeletal dysplasia Intellectual disability, moderate Joint stiffness Craniosynostosis Finger syndactyly Hip dislocation Carious teeth Heterotopia Facial asymmetry Confusion Abnormality of skin pigmentation Long face Renal cyst Abdominal distention Sudden cardiac death Gliosis Nevus Overgrowth High myopia Epidermal acanthosis Open mouth Abnormal form of the vertebral bodies Chronic bronchitis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Hypothyroidism, related diseases and genetic alterations Hydrocephalus and Bronchiectasis, related diseases and genetic alterations Epicanthus and Ventriculomegaly, related diseases and genetic alterations Cardiomyopathy and Progressive cerebellar ataxia, related diseases and genetic alterations Strabismus and Spina bifida, related diseases and genetic alterations Cleft palate and Pes cavus, related diseases and genetic alterations

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