Brachydactyly, and Hemolytic anemia

Diseases related with Brachydactyly and Hemolytic anemia

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


Top matches:

Low match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Low match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Low match PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

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Other less relevant matches:

Low match DEAFNESS-INFERTILITY SYNDROME


Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

DEAFNESS-INFERTILITY SYNDROME Is also known as deafness, sensorineural, and male infertility|chromosome 15q15.3 deletion syndrome|dis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DEAFNESS-INFERTILITY SYNDROME

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 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 SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES


Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

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 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

Low match ANAUXETIC DYSPLASIA 1; ANXD1


Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. Major radiographic characteristics are late-maturing ovoid vertebral bodies with concave dorsal surfaces in the lumbar region; small capital femoral epiphyses; hypoplastic femoral necks; hypoplastic iliac bodies and shallow acetabulae; irregular metaphyseal mineralization and demarcation of the long tubular bones; short first and fifth metacarpals with widened shafts; very short and broad phalanges with small, late-ossifying epiphyses and bullet-shaped middle phalanges; and midface hypoplasia. The number of chondrocytes is severely reduced in the resting and proliferating cartilage, with diminished columnization of the hypertrophic zone (summary by Thiel et al., 2005).Mutations in RMRP also cause 2 milder types of short stature with susceptibility to cancer, cartilage-hair hypoplasia (CHH ) and metaphyseal dysplasia without hypotrichosis (OMIM ). Genetic Heterogeneity of Anauxetic DysplasiaAnauxetic dysplasia-2 (ANXD2 ) is caused by mutation in the POP1 gene on chromosome 8q22.

ANAUXETIC DYSPLASIA 1; ANXD1 Is also known as spondyloepimetaphyseal dysplasia, anauxetic type|anxd|spondylometaepiphyseal dysplasia, anauxetic type|spondylometaepiphyseal dysplasia, menger type|anauxetic dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about ANAUXETIC DYSPLASIA 1; ANXD1

Top 5 symptoms//phenotypes associated to Brachydactyly and Hemolytic anemia

Symptoms // Phenotype % cases
Anemia Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hemolytic anemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Hearing impairment Growth delay High palate Hyperbilirubinemia Proptosis Respiratory tract infection Ataxia Microcephaly Paralysis Sensorineural hearing impairment Hepatosplenomegaly Jaundice Recurrent infections Splenomegaly Purpura

Rare Symptoms - Less than 30% cases


Failure to thrive Scoliosis Frontal bossing Generalized hypotonia Abnormality of the skeletal system Immunodeficiency Hypodontia Macrotia Narrow palpebral fissure Recurrent respiratory infections Abnormal cardiac septum morphology Vasculitis Hepatomegaly Severe short stature Abnormal heart morphology Patent ductus arteriosus Clinodactyly Progressive sensorineural hearing impairment Kyphosis Intellectual disability, mild Prominent eyelashes Neoplasm Ventricular septal defect Macrocephaly Cryptorchidism Myalgia Preauricular pit Migraine Sparse and thin eyebrow Fatigue Increased body weight Visual loss Renal insufficiency Retinal coloboma Clinodactyly of the 5th finger Arrhythmia Abnormality of cardiovascular system morphology Congestive heart failure Vertebral clefting Respiratory distress Dyspnea Muscle weakness Anisopoikilocytosis Spotty hypopigmentation Mitral stenosis Optic nerve coloboma Profound global developmental delay Intrauterine growth retardation Broad forehead Short 5th finger Ventricular hypertrophy Easy fatigability Sinusitis Scaphocephaly Hemiparesis Vitiligo Patellar dislocation Tetralogy of Fallot Depressed nasal tip Short columella Cyanosis Thin vermilion border Pulmonic stenosis Dolichocephaly Hypopigmentation of the skin Hypopigmented skin patches Small for gestational age Short distal phalanx of finger Eversion of lateral third of lower eyelids Congenital mitral stenosis Clubbing Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Premature thelarche Prominent fingertip pads Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Abnormality of the middle ear Epibulbar dermoid Recurrent aspiration pneumonia Biliary atresia Talipes Anteverted nares Common atrium Sparse hair Telecanthus Cholangitis Osteopenia High forehead Small face Talipes equinovarus Bronchomalacia Broad philtrum Trichorrhexis nodosa Anterior plagiocephaly Recurrent ear infections Depressed nasal bridge Ureteropelvic junction obstruction Diaphragmatic eventration Anoperineal fistula Pulmonary valve atresia Heart murmur Midface retrusion Lumbar hyperlordosis Hypotelorism Tetraplegia Hypotrichosis Platyspondyly Hyperlordosis Kyphoscoliosis Mandibular prognathia Respiratory insufficiency Short toe Short neck Flexion contracture Hypertelorism Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Rhizomelia Aortic valve stenosis Delayed closure of the anterior fontanelle Small epiphyses Cervical subluxation Cervical cord compression Broad phalanx Atlantoaxial dislocation J-shaped sella turcica Shallow acetabular fossae Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hypoplastic ilia Elbow flexion contracture Ovoid vertebral bodies Thoracic kyphosis Metaphyseal dysplasia Disproportionate short stature Short finger Flared metaphysis Rocker bottom foot Metaphyseal irregularity Metaphyseal widening Elevated C-reactive protein level Abnormal thrombocyte morphology Polycythemia Right ventricular failure Fever Visual impairment Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Hashimoto thyroiditis Overriding aorta Endocarditis Abnormal nasal morphology Interrupted aortic arch Blindness Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Underdeveloped supraorbital ridges Edema Skeletal dysplasia Juvenile rheumatoid arthritis Increased intracranial pressure Uveitis Amyloidosis Arthropathy Abnormal joint morphology Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Reduced bone mineral density Joint dislocation Arthralgia Meningitis Overgrowth Premature birth Lymphadenopathy Nausea and vomiting Papule Skin rash Arthritis EEG abnormality Overweight Abnormal vertebral morphology Anal stenosis Erythema Bronchiectasis Inflammatory abnormality of the skin Eczema Lymphoma Sensory impairment Asthma Neutropenia Abnormality of the nervous system Leukopenia Conductive hearing impairment Gastroesophageal reflux Myoclonus Hyporeflexia Dysarthria Cognitive impairment Hypoglycorrhachia Lymphopenia Recurrent skin infections Hemoglobinuria Prominent nasal bridge Congenital hypoplastic anemia Anemia of inadequate production Male infertility Azoospermia Bilateral sensorineural hearing impairment Infertility Synophrys Low-set ears Glomerulonephritis Cortical myoclonus Autoimmune neutropenia Vasculitis in the skin Membranoproliferative glomerulonephritis Allergic rhinitis Severe combined immunodeficiency Atopic dermatitis Combined immunodeficiency Zonular cataract Stomatocytosis Reduced sperm motility Tetraparesis Acute kidney injury Rhabdomyolysis Aphasia Emotional lability Hemiplegia Spastic tetraparesis Exercise intolerance Muscle cramps Progressive encephalopathy Retinal dystrophy Muscular dystrophy Mental deterioration Rod-cone dystrophy Encephalopathy Myopathy Delayed speech and language development Pain Reticulocytosis Myoglobinuria Conjugated hyperbilirubinemia Hypertonia Broad neck Hyperkalemia Delayed myelination Inability to walk Paraplegia Spastic paraplegia Absent speech Hydrocephalus Decreased mean corpuscular volume Hyperreflexia Spasticity Cataract Nystagmus Exercise-induced myoglobinuria Exercise-induced muscle cramps Recurrent myoglobinuria Increased muscle fatiguability Abnormal spermatogenesis Moderate hearing impairment Autoimmune thrombocytopenia Blue sclerae Congenital hip dislocation Cafe-au-lait spot Long eyelashes Renal dysplasia Heterotopia Recurrent otitis media Small nail Coarctation of aorta Abnormal dermatoglyphics Congenital diaphragmatic hernia Microdontia Otitis media Growth hormone deficiency Decreased antibody level in blood Dental malocclusion Prominent nose Intestinal malrotation Horseshoe kidney Abnormality of the urinary system Highly arched eyebrow Long palpebral fissure IgA deficiency Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Severe hearing impairment Celiac disease Poor suck Right bundle branch block Bundle branch block Hydroureter Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Single transverse palmar crease Hirsutism Micrognathia Diarrhea Pneumonia Hypospadias Depressivity Obesity Hernia Dilatation Abnormality of the dentition Atrial septal defect Micropenis Myopia Wide nasal bridge Epicanthus Feeding difficulties Ptosis Cleft palate Muscular hypotonia Strabismus Posteriorly rotated ears Hypothyroidism Wide nose Protruding ear Polymicrogyria Joint hypermobility Astigmatism Anal atresia Malabsorption Autoimmunity Coloboma Abnormality of the pinna Pes planus Postnatal growth retardation Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Joint laxity Anxiety Hydronephrosis Hypoglycemia Hypoplastic iliac body



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Visual impairment and Ophthalmoplegia, related diseases and genetic alterations High palate and Leukodystrophy, related diseases and genetic alterations Ptosis and Skin rash, related diseases and genetic alterations Immunodeficiency and Syndactyly, related diseases and genetic alterations Hypertension and Patent ductus arteriosus, related diseases and genetic alterations Leukemia and Irritability, related diseases and genetic alterations

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