Anemia, and Short distal phalanx of finger

Diseases related with Anemia and Short distal phalanx of finger

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


Top matches:

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 PYCNODYSOSTOSIS


Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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

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Other less relevant matches:

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Low match ANONYCHIA CONGENITA TOTALIS


Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).For a list of other nonsyndromic congenital nail disorders and a discussion of genetic heterogeneity, see NDNC1 (OMIM ).

ANONYCHIA CONGENITA TOTALIS Is also known as anonychia/hyponychia congenita|anonychia totalis

Related symptoms:

  • Short distal phalanx of finger
  • Anonychia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ANONYCHIA CONGENITA TOTALIS

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 MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME


Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY 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

Low match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I


Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Top 5 symptoms//phenotypes associated to Anemia and Short distal phalanx of finger

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Anemia and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High forehead Scoliosis Microcephaly Hepatomegaly Macrocephaly Hypoplasia of the corpus callosum Abnormal facial shape Brachydactyly Frontal bossing Generalized hypotonia Hearing impairment Hydrocephalus Abnormality of the dentition Hypertelorism Intellectual disability Small nail Skeletal dysplasia Pneumonia Hepatosplenomegaly Sparse scalp hair Microdontia Abnormality of epiphysis morphology Upslanted palpebral fissure Narrow chest Malar flattening Anteverted nares Proptosis Growth delay Depressed nasal bridge

Rare Symptoms - Less than 30% cases


Neurodegeneration Ataxia Anonychia Prominent nasal bridge Recurrent urinary tract infections Hip dysplasia Abnormality of the metaphysis Atrial septal defect Genu valgum High palate Visual loss Dilatation Visual impairment Nystagmus Truncal obesity Neoplasm Osteopetrosis Cataract Wide nasal bridge Obesity Short phalanx of finger Patent ductus arteriosus Narrow mouth Flexion contracture Developmental regression Osteomyelitis Stroke Cone-shaped epiphysis Widely spaced teeth Downturned corners of mouth Short neck Delayed myelination Limb undergrowth Ptosis Abnormality of skin pigmentation Downslanted palpebral fissures Wide mouth Intellectual disability, mild Posteriorly rotated ears Prominent occiput Retrognathia Abnormality of dental morphology Hypoplasia of the maxilla Increased bone mineral density Severe short stature Bone pain Hypopigmented skin patches Recurrent infections Cognitive impairment Splenomegaly Prominent nose Kyphosis Abnormality of pelvic girdle bone morphology Midface retrusion Recurrent fractures Delayed eruption of teeth Carious teeth Craniosynostosis Prominent forehead Osteoporosis Apnea Osteolysis Brachycephaly Increased susceptibility to fractures Osteopenia Sparse body hair Insulin-resistant diabetes mellitus Abnormality of the pons Cryptorchidism Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse hair Poor coordination Peripheral neuropathy Skeletal muscle atrophy Basal ganglia calcification Telecanthus Ankle clonus Gait disturbance Mixed hearing impairment Intellectual disability, severe Irregular vertebral endplates Progressive gait ataxia Thoracic kyphosis Narrow iliac wings Motor tics Basilar impression Micronodular cirrhosis Triangular mouth Absent axillary hair Alveolar ridge overgrowth Posterior polar cataract Abnormal glucose tolerance Ectopic calcification Metatarsus adductus Recurrent ear infections Olfactory lobe agenesis Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Birth length greater than 97th percentile Talipes equinovarus Melanocytic nevus Bilateral cryptorchidism Macrotia Behavioral abnormality Broad forehead Abnormal pyramidal sign Protruding ear Aggressive behavior Microphthalmia Conductive hearing impairment Deeply set eye Hypothyroidism Synophrys Autism Gait ataxia Diabetes mellitus Hypogonadism Pes cavus Agenesis of corpus callosum Babinski sign Pectus excavatum Congenital cataract Distal amyotrophy Areflexia Clonus Self-injurious behavior Schizophrenia Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Hypergonadotropic hypogonadism Gynecomastia Nevus Torus palatinus Abnormal form of the vertebral bodies Thick lower lip vermilion Bradykinesia Cerebral calcification Myopathy Hypertonia Otitis media Thickened skin Sensorineural hearing impairment Posterior scalloping of vertebral bodies Aplasia/Hypoplasia of the earlobes Forearm undergrowth Pseudoepiphyses Large sella turcica Narrow pelvis bone Abnormality of female external genitalia Shortening of all distal phalanges of the fingers Ulnar bowing Long clavicles Arterial stenosis Abnormality of the cerebral vasculature Distal symphalangism Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Hypoplastic iliac wing Increased intraocular pressure Radial bowing Severe postnatal growth retardation Severe intrauterine growth retardation Dilatation of the cerebral artery Pseudoepiphyses of the metacarpals Thin clavicles Multiple cafe-au-lait spots Jaundice Congenital hypoplastic anemia Increased total bilirubin Poikilocytosis Anemia of inadequate production Anisocytosis Reticulocytosis Macrocytic anemia Cutaneous syndactyly Pallor Syndactyly Moyamoya phenomenon Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Rootless teeth Alveolar process hypoplasia Overtubulated long bones Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting High iliac wings Proximal femoral epiphysiolysis Proportionate short stature Disproportionate short stature Absent facial hair Delayed skeletal maturation Micromelia Joint hyperflexibility Hypermetropia Microtia Attention deficit hyperactivity disorder Postnatal growth retardation Joint laxity Recurrent respiratory infections Clinodactyly of the 5th finger Hypospadias Full cheeks Headache Vomiting Ventriculomegaly Intrauterine growth retardation Low-set ears Hemoglobinuria Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Dry skin Underdeveloped nasal alae Slender long bone Laryngomalacia Tibial bowing Limited elbow extension Aplasia/Hypoplasia of the eyebrow High pitched voice Flared metaphysis Short middle phalanx of finger Precocious puberty Nasal speech Reduced number of teeth Acanthosis nigricans Convex nasal ridge Narrow palpebral fissure Coxa vara Coxa valga Cafe-au-lait spot Hypoplasia of dental enamel Hemiparesis Fine hair Epidermal acanthosis Type II diabetes mellitus Sloping forehead Duplicated collecting system Large for gestational age Seborrheic dermatitis Lumbar scoliosis Growth hormone deficiency Abnormality of the skin Blue sclerae Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Abnormal leukocyte morphology Cranial hyperostosis Hypodontia Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Aseptic necrosis Rhinitis Hyperostosis Epicanthus Respiratory insufficiency Cranial nerve paralysis Smooth philtrum Bifid uvula Macroglossia Renal cyst Nephropathy Retinal dystrophy Postaxial polydactyly Retinal degeneration Oral cleft Stage 5 chronic kidney disease Scarring Postural instability Abnormality of the kidney Low-set, posteriorly rotated ears Cleft lip Umbilical hernia Polydactyly Rod-cone dystrophy Depressivity Hernia Renal insufficiency Abnormality of the metacarpal bones Joint dislocation Narrow forehead Persistence of primary teeth Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Abnormal pattern of respiration Abnormality of the fingernails Low back pain Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Back pain Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Sleep apnea Strabismus Hypocalcemia Facial palsy Bone marrow hypocellularity Lymphedema Abnormality of the face Abnormal vertebral morphology Osteoarthritis Pancytopenia Ectodermal dysplasia Short toe Paralysis Arthritis Muscle weakness Mandibular prognathia Abnormality of the nail Thrombocytopenia Wormian bones Immunodeficiency Blindness Edema Optic atrophy Narrow palate Hyperlordosis Cholestasis Breech presentation Generalized myoclonic seizures Overgrowth Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Vesicoureteral reflux Talipes Gliosis Sepsis Hemolytic anemia Generalized-onset seizure Hypopigmentation of the skin Wide nose Hepatic failure Cirrhosis Ichthyosis Abnormality of eye movement Sparse and thin eyebrow Abnormality of the eye Muscular hypotonia of the trunk Small for gestational age Hypsarrhythmia Coarse facial features Overfolded helix Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Abnormality of the thorax Scaling skin Inflammatory abnormality of the skin Redundant skin Elevated alkaline phosphatase Deep philtrum Multicystic kidney dysplasia Cerebral visual impairment Gingival overgrowth Tall stature Postnatal microcephaly Large fontanelles Neonatal hypotonia Profound global developmental delay Renal dysplasia Acute kidney injury Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Cone-shaped epiphyses of the phalanges of the hand Recurrent lower respiratory tract infections Scaphocephaly Prominent metopic ridge Abnormal retinal morphology Pyelonephritis Nephronophthisis Short thorax Short femoral neck Trigonocephaly Cutis laxa Short ribs Wide anterior fontanel Hepatic fibrosis Exotropia Hypoplasia of the capital femoral epiphysis Accessory oral frenulum Polyhydramnios Absent speech Spotty hypopigmentation Micropenis Respiratory failure Cerebral cortical atrophy Myoclonus Cerebellar hypoplasia Anisopoikilocytosis Encephalopathy Pain Cerebral atrophy Frontal upsweep of hair Long philtrum Short nose Cerebellar atrophy Hyperreflexia Spasticity Cleft palate Absence of renal corticomedullary differentiation Short proximal phalanx of finger Aplasia of the middle phalanx of the hand Erythroid hyperplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Carious teeth, related diseases and genetic alterations Ventricular septal defect and EEG abnormality, related diseases and genetic alterations Low-set ears and Dilatation, related diseases and genetic alterations Cleft palate and Alopecia, related diseases and genetic alterations Micrognathia and Intellectual disability, mild, related diseases and genetic alterations

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