Anemia, and Dolichocephaly

Diseases related with Anemia and Dolichocephaly

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


Top matches:

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match MEVALONIC ACIDURIA


Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD; see this term) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.

MEVALONIC ACIDURIA Is also known as mva|complete mevalonate kinase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEVALONIC ACIDURIA

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

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Other less relevant matches:

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Low match X-LINKED CENTRONUCLEAR MYOPATHY


X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy|myotubular myopathy, x-linked|myotubular myopathy 1|xlmtm|mtmx|xlcnm|mtm1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CENTRONUCLEAR MYOPATHY

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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 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

Top 5 symptoms//phenotypes associated to Anemia and Dolichocephaly

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Global developmental delay Short stature Growth delay Cataract Abnormal cardiac septum morphology High palate Ptosis Failure to thrive Nystagmus Ataxia Myopia Micrognathia Epicanthus Neoplasm Generalized hypotonia Recurrent infections Intrauterine growth retardation Clinodactyly of the 5th finger Brachydactyly Pneumonia Syndactyly Severe short stature Muscular hypotonia Renal insufficiency Postnatal growth retardation Kyphoscoliosis Fever Hypertelorism Diarrhea Posteriorly rotated ears Protruding ear Leukemia Hypothyroidism Hypospadias Visual loss Wide nasal bridge Hearing impairment Cafe-au-lait spot Decreased antibody level in blood Finger syndactyly Hernia Hepatomegaly Immunodeficiency Clinodactyly Strabismus Proptosis Paralysis Abnormal heart morphology Patent ductus arteriosus Sinusitis Abnormal vertebral morphology Abnormality of skin pigmentation Abnormality of cardiovascular system morphology Abnormality of the kidney Respiratory distress

Rare Symptoms - Less than 30% cases


Macrotia Acute myeloid leukemia Rod-cone dystrophy Pes planus Intellectual disability, moderate Anal atresia Astigmatism Kyphosis Polymicrogyria Abnormality of chromosome stability Chromosome breakage IgA deficiency Azoospermia Myeloid leukemia Squamous cell carcinoma Reduced number of teeth Hypopigmented skin patches Atrial septal defect Narrow face Telangiectasia Otitis media Prominent nose Heterotopia Lymphoma Polydactyly Diabetes mellitus Hydroureter Horseshoe kidney Mandibular prognathia Upslanted palpebral fissure Polyhydramnios Microdontia Visual impairment Depressed nasal bridge Scaphocephaly Recurrent urinary tract infections Frontal bossing Renal dysplasia Muscle weakness Headache Diaphragmatic eventration Renal cyst Carcinoma Hip dislocation Craniosynostosis Facial asymmetry Umbilical hernia Skeletal dysplasia Epibulbar dermoid Hemangioma Toe syndactyly Fatigue Depressivity Single transverse palmar crease High myopia Abnormality of the skeletal system Feeding difficulties Cleft palate Macrocephaly Respiratory insufficiency Multiple cafe-au-lait spots Hydrocephalus High forehead Long face Dental malocclusion Arteriovenous malformation Irregular hyperpigmentation Cholangitis Smooth philtrum Abnormality of the urinary system Preauricular pit Pain Low-set ears Obesity Optic atrophy Downslanted palpebral fissures Nevus Thrombocytopenia Respiratory tract infection Dyspnea Blue sclerae Tetralogy of Fallot Splenomegaly Retinal dystrophy Hypoplastic anemia Delayed skeletal maturation Congestive heart failure Intellectual disability, mild Abnormality of the dentition Skin rash Malabsorption Abnormality of the liver Ventricular septal defect Low-set, posteriorly rotated ears Abdominal pain Recurrent respiratory infections Increased body weight Myopathy Hypoglycemia Lymphangioma Abnormality of the foot Metatarsus valgus Irritability Small for gestational age Epidermal nevus Hallux valgus Abnormality of the eye Hypertrophic cardiomyopathy Calvarial hyperostosis Weight loss Portal vein thrombosis Hypogonadism Macrodactyly Sirenomelia Microphthalmia Ventriculomegaly Narrow internal auditory canal Facial hyperostosis Testicular neoplasm Bruising susceptibility Upper limb asymmetry Short palpebral fissure Cranial nerve paralysis Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Aganglionic megacolon Abnormality of the genital system Choanal atresia Pancytopenia Vertigo Oligohydramnios Sloping forehead Thrombophlebitis Renal agenesis Hypopigmentation of the skin Neutropenia Generalized hyperkeratosis Neoplasm of the central nervous system Hyperreflexia Venous malformation Nephrogenic diabetes insipidus Keloids Nevus sebaceous Eversion of lateral third of lower eyelids Congenital mitral stenosis Autoimmune thrombocytopenia Optic nerve coloboma Mitral stenosis Retinal coloboma Short 5th finger Connective tissue nevi Depressed nasal tip Short columella Patellar dislocation Vitiligo Depigmentation/hyperpigmentation of skin Overweight Hashimoto thyroiditis Anal stenosis Thyroiditis Neoplasm of the thymus Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Long palpebral fissure Celiac disease Right bundle branch block Hypertrophy of skin of soles Bundle branch block Bilateral cryptorchidism Cupped ear Precocious puberty Central heterochromia Small face Anoperineal fistula Vertebral clefting Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Reduced bone mineral density Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Common atrium Thymus hyperplasia Broad philtrum Retinal hamartoma Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Bronchogenic cyst Retinal nonattachment Abnormal subcutaneous fat tissue distribution Renal hypoplasia/aplasia Ectopic kidney Abnormality of vision Sudden cardiac death Abnormality of the wrist Macroorchidism Lymphedema Abnormality of retinal pigmentation Thickened skin Subcutaneous nodule Meningioma Abnormal form of the vertebral bodies Open mouth Epidermal acanthosis Overgrowth Round face Gliosis Abdominal distention Lymphopenia Confusion Carious teeth Joint stiffness Hyperkeratosis Deep venous thrombosis Varicose veins Glaucoma Lower limb asymmetry Abnormality of the neck Constipation Anteverted nares Abnormality of the preputium Hemihypertrophy Abnormality of finger Abnormality of the nail Aplasia/Hypoplasia of fingers Lipodystrophy Decreased muscle mass Pericardial effusion Neurofibromas Multiple lipomas Hamartoma Diabetes insipidus Ovarian neoplasm Hyperostosis Melanocytic nevus Generalized hyperpigmentation Pulmonary embolism Spinal canal stenosis Chorioretinal coloboma Cachexia Generalized hirsutism Growth abnormality Palmoplantar hyperkeratosis Goiter Abnormality of the metacarpal bones Abnormal lung lobation Neoplasm of the lung Lipoma Exostoses Venous thrombosis Papilledema Capillary hemangioma Abnormality of dental enamel Spinal cord compression Brittle hair Anisocytosis Hyperinsulinemia Abnormal eyelid morphology Enlarged polycystic ovaries Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Asymmetric growth Abnormality of the ulna Hearing abnormality Abnormal renal morphology External ear malformation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Asymmetry of the thorax Absent thumb Disproportionate tall stature Vascular skin abnormality Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Abnormal aortic valve morphology Abnormal localization of kidney Aplasia/Hypoplasia of the uvula Clubbing of toes Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Arterial thrombosis Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Buphthalmos Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Myofibrillar myopathy Partial duplication of thumb phalanx Reticulocytopenia Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Thin bony cortex Long penis Primary hypothyroidism Visceral angiomatosis Abnormality of nervous system morphology Thick nasal alae Abnormal aortic morphology Pyridoxine-responsive sideroblastic anemia Cholestasis Failure to thrive in infancy Sacral dimple Abnormality of the nose Chronic obstructive pulmonary disease Chronic lung disease Hypoplastic pelvis Hypoplasia of the zygomatic bone Acute leukemia IgG deficiency Hodgkin lymphoma Telangiectasia of the skin Pulmonary fibrosis High pitched voice Hand polydactyly Bronchiectasis Decreased fertility in females Abnormality of the face Hypertrichosis Cutaneous photosensitivity Type II diabetes mellitus Specific learning disability Abnormality of the skin Ichthyosis Infertility Erythema Hyperhidrosis Malar flattening Short nose Cardiomyopathy IgM deficiency Female infertility Fluctuating splenomegaly Thin upper lip vermilion Central hypothyroidism Mild microcephaly Spondyloepiphyseal dysplasia Cutaneous syndactyly Microretrognathia Progressive microcephaly Dental crowding Decreased testicular size Febrile seizures Tapered finger Hypermetropia Camptodactyly Neonatal hypotonia Gastroesophageal reflux Spotty hypopigmentation Narrow mouth Gait ataxia Osteoporosis Cerebellar hypoplasia Inguinal hernia Absent speech Long philtrum Behavioral abnormality Delayed speech and language development Facial telangiectasia in butterfly midface distribution Agenesis of maxillary lateral incisor Neoplasm of the gastrointestinal tract Spotty hyperpigmentation Normocytic hypoplastic anemia Fluctuating hepatomegaly Skeletal muscle atrophy Double outlet right ventricle Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Pulmonary valve atresia Overriding aorta Endocarditis Abnormal nasal morphology Right ventricular failure Interrupted aortic arch Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Hyperventilation Cerebellar atrophy Poor appetite Underdeveloped supraorbital ridges Polycythemia Heart murmur Clubbing Easy fatigability Hemiparesis Ventricular hypertrophy Cyanosis Thin vermilion border Pulmonic stenosis Broad forehead Arrhythmia Edema Vomiting Morbilliform rash Clumsiness Chronic leukemia Therapeutic abortion Glutathione synthetase deficiency Normocytic anemia Extramedullary hematopoiesis Agenesis of cerebellar vermis Cholestatic liver disease Organic aciduria Nuclear cataract Severe failure to thrive Petechiae Leukocytosis Large fontanelles Underdeveloped nasal alae Cerebral atrophy Aciduria Progressive cerebellar ataxia Triangular face Metabolic acidosis Lactic acidosis Lymphadenopathy Abnormality of the nervous system Elevated hepatic transaminase Hepatosplenomegaly Arthralgia Acidosis Cerebral cortical atrophy Elevated serum creatine phosphokinase Flexion contracture Gait disturbance Poor suck Short thorax Accessory oral frenulum Pyelonephritis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Prominent metopic ridge Acute kidney injury Abnormal retinal morphology Nephronophthisis Short femoral neck Aplasia of the middle phalanx of the hand Cone-shaped epiphysis Trigonocephaly Widely spaced teeth Cutis laxa Short ribs Wide anterior fontanel Hepatic fibrosis Exotropia Short phalanx of finger Sparse scalp hair Narrow forehead Bifid uvula Macroglossia Frontal upsweep of hair Short proximal phalanx of finger Nephropathy Highly arched eyebrow Abnormal dermatoglyphics Purpura Hyperbilirubinemia Congenital hip dislocation Sparse and thin eyebrow Long eyelashes Recurrent otitis media Small nail Coarctation of aorta Congenital diaphragmatic hernia Growth hormone deficiency Intestinal malrotation Hypodontia Hemolytic anemia Absence of renal corticomedullary differentiation Hirsutism Wide nose Joint hypermobility Autoimmunity Coloboma Abnormality of the pinna Feeding difficulties in infancy Joint laxity Anxiety Hydronephrosis Jaundice Micropenis Dilatation Delayed eruption of teeth Postaxial polydactyly Dysphagia Hip dysplasia Cholelithiasis Atrioventricular block Sleep apnea External ophthalmoplegia Severe muscular hypotonia Accelerated skeletal maturation Nephrocalcinosis EMG abnormality Decreased liver function Progressive muscle weakness Nephrolithiasis Decreased fetal movement Hepatitis Waddling gait Ophthalmoparesis Abnormal bleeding Generalized muscle weakness Inability to walk Arachnodactyly Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Apnea Facial palsy Respiratory failure Areflexia Midface retrusion Talipes equinovarus Pyloric stenosis Myotonia Short distal phalanx of finger Slender toe Retinal degeneration Oral cleft Stage 5 chronic kidney disease Scarring Wide mouth Cleft lip Prominent forehead Hypoplasia of the corpus callosum Short neck Cognitive impairment Hepatic hemangioma Respiratory failure requiring assisted ventilation Birth length greater than 97th percentile Premature adrenarche Neonatal respiratory distress Nocturnal hypoventilation Fractures of the long bones Cavernous hemangioma Spherocytosis Head tremor Facial diplegia Hypoventilation Neck muscle weakness Centrally nucleated skeletal muscle fibers Weak cry Hypokinesia Long fingers Mask-like facies Mandibular hyperostosis



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