Anemia, and Sloping forehead

Diseases related with Anemia and Sloping forehead

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


Top matches:

Medium match CERNUNNOS-XLF DEFICIENCY


Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.

CERNUNNOS-XLF DEFICIENCY Is also known as combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome|cernunnos xlfd|nhej1 deficiency|scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with microcephaly, growth retardation, and

Related symptoms:

  • Microcephaly
  • Growth delay
  • Anemia
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CERNUNNOS-XLF DEFICIENCY

Medium match MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE; MCPH16

Medium match CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME


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

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Other less relevant matches:

Medium match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Medium match SECKEL SYNDROME 1; SCKL1


Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance (Shanske et al., 1997). Genetic Heterogeneity of Seckel SyndromeOther forms of Seckel syndrome include SCKL2 (OMIM ), caused by mutation in the RBBP8 gene (OMIM ) on chromosome 18q11; SCKL4 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on chromosome 13q12; SCKL5 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on chromosome 15q21; SCKL6 (OMIM ), caused by mutation in the CEP63 gene (OMIM ) on chromosome 3q22; SCKL7 (OMIM ), caused by mutation in the NIN gene (OMIM ) on chromosome 14q22; SCKL8 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q21; SCKL9 (OMIM ), caused by mutation in the TRAIP gene (OMIM ) on chromosome 3p21; and SCKL10 (OMIM ), caused by mutation in the NSMCE2 gene (OMIM ) on chromosome 8q24.The report of a Seckel syndrome locus on chromosome 14q, designated SCKL3, by Kilinc et al. (2003) was found to be in error; see HISTORY.

SECKEL SYNDROME 1; SCKL1 Is also known as bird-headed dwarfism|nanocephalic dwarfism|sckl|microcephalic primordial dwarfism i|seckel-type dwarfism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about SECKEL SYNDROME 1; SCKL1

Medium match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Medium match MATERNAL PHENYLKETONURIA


Maternal phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism (see this term), an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in nonphenylketonuric offspring of mothers with excess phenylalanine (Phe) concentrations.

MATERNAL PHENYLKETONURIA Is also known as phenylalanine hydroxylase deficiency|phenylketonuric embryopathy|maternal pku|pah deficiency|folling disease|maternal hyperphenylalaninemia|hyperphenylalaninemic embryopathy|oligophrenia phenylpyruvica

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MATERNAL PHENYLKETONURIA

Low match DUBOWITZ SYNDROME


Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about DUBOWITZ SYNDROME

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

Top 5 symptoms//phenotypes associated to Anemia and Sloping forehead

Symptoms // Phenotype % cases
Microcephaly Very Common - Between 80% and 100% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Growth delay

Uncommon Symptoms - Between 30% and 50% cases


Intrauterine growth retardation

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Convex nasal ridge Cataract Hypoplasia of the corpus callosum Attention deficit hyperactivity disorder Thrombocytopenia Postnatal growth retardation Ventriculomegaly Hypospadias Prominent nasal bridge High palate Nystagmus Small for gestational age Spasticity Prominent nose Strabismus Cryptorchidism Low-set ears Retrognathia Vomiting Cognitive impairment Severe short stature Hyperreflexia Pes cavus Clinodactyly of the 5th finger Hypertonia Abnormality of the dentition Hyperactivity Pachygyria Cutaneous photosensitivity Neoplasm Delayed skeletal maturation Scoliosis Proportionate short stature Ataxia Upslanted palpebral fissure Abnormal facial shape Immunodeficiency Delayed myelination Dry skin Ptosis Abnormality of skin pigmentation Lymphopenia Recurrent infections Tetraplegia Generalized hypotonia Hypertelorism

Rare Symptoms - Less than 30% cases


Talipes B lymphocytopenia Abnormality of neuronal migration Projectile vomiting Low anterior hairline Limb undergrowth Cafe-au-lait spot Hypotelorism Chronic diarrhea Epidermal acanthosis Acanthosis nigricans Lymphoma Abnormality of female external genitalia Sandal gap Leukemia Flexion contracture Eczema Intellectual disability, moderate Hydronephrosis Asthma Macrotia Telecanthus Long nose Anal stenosis Synophrys Abnormality of the skeletal system Hearing impairment Microtia Blepharophimosis Ivory epiphyses Sensorineural hearing impairment Triangular face Delayed speech and language development Hypoplasia of dental enamel Clinodactyly Tremor Downslanted palpebral fissures Acute lymphoblastic leukemia Decrease in T cell count Midface retrusion Hernia Obesity Hypothyroidism Dilatation High forehead Narrow face Retinopathy Hypermetropia Glioma Severe intrauterine growth retardation Recurrent respiratory infections Micropenis Adducted thumb Opacification of the corneal stroma Cortical gyral simplification Long philtrum Renal insufficiency Wide mouth Postnatal microcephaly Microphthalmia Cerebellar hypoplasia Cerebral cortical atrophy Cerebral calcification Truncal obesity Epicanthus Abnormality of cardiovascular system morphology Gliosis Headache Pneumonia Muscular hypotonia of the trunk Hydrocephalus Brachydactyly Wide nasal bridge Abnormality of the liver Joint hyperflexibility Skin rash Cardiomyopathy Sparse scalp hair Lissencephaly Depressed nasal bridge Visual impairment Spastic tetraplegia High pitched voice Fine hair Irritability Anteverted nares Respiratory insufficiency Cleft palate Mood changes Sleep disturbance Hypopigmentation of the skin Ascites Camptodactyly Abnormal posturing Abnormality of the kidney Chorea Fair hair Nephropathy Generalized hypopigmentation Blue irides Abnormality of the eye Increased level of hippuric acid in urine Hematuria Phenylpyruvic acidemia Inability to walk Arachnodactyly Poor speech Maternal hyperphenylalaninemia Abnormality of eye movement Camptodactyly of finger Severe global developmental delay Abnormality of the foot Reduced phenylalanine hydroxylase activity Dystonia Proteinuria Small hand Malabsorption Underdeveloped supraorbital ridges Submucous cleft hard palate Microphakia Delayed cranial suture closure Folate deficiency Metatarsus adductus Cutis marmorata Hypoplastic toenails Toe syndactyly Sacral dimple Aplasia/Hypoplasia of the corpus callosum Short foot Body odor Delayed eruption of teeth Spina bifida occulta Abnormality of the fingernails Wide anterior fontanel Broad thumb Hypoparathyroidism Abnormality of the antihelix EEG abnormality Optic atrophy Gastroesophageal reflux Absent speech Myopia Prenatal maternal abnormality Cerebral atrophy Cerebellar atrophy Edema Talipes equinovarus Pectus excavatum Sparse lateral eyebrow Low-set, posteriorly rotated ears Feeding difficulties Muscular hypotonia Abnormality of thumb phalanx Protruding ear Craniosynostosis Abnormality of neutrophils Hyperphenylalaninemia Rectal prolapse Aplasia/Hypoplasia of the thumb Diffuse cerebral atrophy Brain atrophy Nasal speech Multiple cafe-au-lait spots Disproportionate short stature Slender long bone Tibial bowing Limited elbow extension Aplasia/Hypoplasia of the eyebrow Flared metaphysis Short middle phalanx of finger Abnormality of dental morphology Cone-shaped epiphysis Precocious puberty Reduced number of teeth Severe postnatal growth retardation Laryngomalacia Hypopigmented skin patches Narrow palpebral fissure Coxa vara Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Hemiparesis Type II diabetes mellitus Microdontia Hip dysplasia Dilatation of the cerebral artery Radial bowing Full cheeks Forearm undergrowth Rootless teeth Alveolar process hypoplasia Overtubulated long bones Generalized microdontia Straight clavicles High iliac wings Proximal femoral epiphysiolysis Moyamoya phenomenon Thin clavicles Distal symphalangism Pseudoepiphyses of the metacarpals Pseudoepiphyses Increased intraocular pressure Large sella turcica Narrow pelvis bone Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Arterial stenosis Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Hypoplastic iliac wing Underdeveloped nasal alae Short distal phalanx of finger Limitation of joint mobility Chronic kidney disease Hiatus hernia Hypoplasia of the iris Abnormality of immune system physiology Congenital hypothyroidism Slender finger Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Glomerulosclerosis Hypoalbuminemia Hyperkinesis Aspiration pneumonia Severe muscular hypotonia Aspiration Joint contracture of the hand Progressive microcephaly Heterotopia Small nail Hypsarrhythmia Nephrotic syndrome Oligohydramnios Narrow forehead Dandy-Walker malformation Premature birth Adrenal hypoplasia Mild microcephaly Micromelia Albuminuria Narrow chest Stroke Joint laxity Skeletal dysplasia Patent ductus arteriosus Intellectual disability, mild Atrial septal defect Thyroid dysgenesis Laryngospasm Hypoplasia of the ear cartilage Encephalomalacia Congenital nephrotic syndrome Esophagitis Abnormality of the intervertebral disk Axial dystonia Diffuse mesangial sclerosis Diaphragmatic eventration Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Aqueductal stenosis Poor coordination Tubular atrophy Self-mutilation Broad nasal tip Iron deficiency anemia Abnormality of the hair Autoimmune hemolytic anemia Abnormality of the musculature Freckling Non-midline cleft lip Combined immunodeficiency Premature ovarian insufficiency Deep philtrum Cachexia Recurrent pneumonia Sinusitis Hearing abnormality Telangiectasia Bronchiectasis Recurrent urinary tract infections Abnormality of the face Choanal atresia Primary amenorrhea Amenorrhea Otitis media Neurodegeneration Neuroblastoma Acute leukemia Cleft upper lip Penoscrotal hypospadias Hyperlordosis Pes planus Posteriorly rotated ears Kyphosis Ventricular septal defect Progressive vitiligo Mastoiditis Malar prominence Dysgammaglobulinemia Anorectal anomaly Abnormal eyelid morphology Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria Abnormal hair quantity Rhabdomyosarcoma Abnormality of chromosome stability Medulloblastoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Hemolytic anemia Anal atresia Hip dislocation Knee flexion contracture Hepatosplenomegaly Jaundice Splenomegaly Intellectual disability, severe Fever Hepatomegaly Failure to thrive Muscle fibrillation Drooling Decreased body weight Hypertrophic cardiomyopathy Open mouth Glaucoma Agenesis of corpus callosum Congestive heart failure Bird-like facies Recurrent viral infections Recurrent bacterial infections Decreased antibody level in blood Bulbous nose Autoimmunity Elevated hepatic transaminase Corneal opacity Mental deterioration Spastic tetraparesis Abnormality of the nervous system Respiratory failure Diarrhea Short neck Skeletal muscle atrophy Muscle weakness Congenital microcephaly Increased CSF protein Petechiae Purpura Generalized tonic-clonic seizures Microretrognathia Cerebral visual impairment Decreased liver function Tetraparesis Status epilepticus Intellectual disability, profound Neuronal loss in central nervous system Polymicrogyria Abnormality of movement Congenital cataract Abnormality of the pinna Pulmonic stenosis Scleroderma Goiter Abnormality of lipid metabolism Cerebellar vermis atrophy Ectopic kidney Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Leukopenia Low hanging columella Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Insulin resistance Abnormal lung morphology Broad-based gait Renal hypoplasia Apraxia Bradykinesia Pigmentary retinopathy Increased circulating gonadotropin level Misalignment of teeth Renal agenesis Aggressive behavior Hypoplastic left heart Malnutrition Obsessive-compulsive behavior Spontaneous abortion Psychosis Coarctation of aorta Nausea Abnormality of the cerebral white matter Pruritus Anxiety Shuffling gait Osteopenia Autism Abnormal heart morphology Depressivity Behavioral abnormality Motor delay Long neck Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Decreased testicular size Progressive cerebellar ataxia Facial asymmetry Clitoral hypertrophy Acute monocytic leukemia 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Dislocated radial head Acute myeloid leukemia Myeloid leukemia Myelodysplasia Lumbar scoliosis Patent foramen ovale Narrow palate Elbow flexion contracture Dental crowding Cerebellar vermis hypoplasia Pancytopenia Dental malocclusion Tapered finger Single transverse palmar crease Thick eyebrow Selective tooth agenesis Small anterior fontanelle Polyneuropathy Deeply set eye Sensory neuropathy Falls Long face Dysmetria Dilated cardiomyopathy Short philtrum Abnormal pyramidal sign Sparse hair Rigidity Mandibular prognathia Abnormal finger flexion creases Diabetes mellitus Hypogonadism Babinski sign Inguinal hernia Gait disturbance Dysarthria Peripheral neuropathy Hypoplasia of proximal fibula Large basal ganglia Hypoplasia of proximal radius Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines



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