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:
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
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
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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:
SOURCES:
OMIM
MENDELIAN
More info about BLOOD GROUP, SS; SS
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
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
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
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
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
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
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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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