Anemia, and Single transverse palmar crease

Diseases related with Anemia and Single transverse palmar crease

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


Top matches:

Low match BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD


BTDD is an autosomal dominant disorder characterized by brachycephaly, trichomegaly, and developmental delay. Although it is caused by dysfunction of the ribosome, patients do not have anemia (summary by Paolini et al., 2017).

BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD Is also known as macinnes syndrome|mcins

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD

Low match DPAGT1-CDG


DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3).

DPAGT1-CDG Is also known as cdg syndrome type ij|cdg-ij|congenital disorder of glycosylation type 1j|cdgij|cdg1j|carbohydrate deficient glycoprotein syndrome type ij|cdg ij|dolichyl-phosphate n-acetylgalactosamine phosphotransferase deficiency|congenital disorder of glycosylation ty

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DPAGT1-CDG

Low match FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION


FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION Is also known as familial adenomatous polyposis due to del(5)(q22.2)|colorectal adenomatous polyposis due to monosomy 5q22.2|familial polyposis coli due to monosomy 5q22.2|familial adenomatous polyposis due to monosomy 5q22.2|fap due to monosomy 5q22.2

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL ADENOMATOUS POLYPOSIS DUE TO 5Q22.2 MICRODELETION

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Other less relevant matches:

Low match HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC


HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC Is also known as hyperferritinemia-cataract syndrome|hyperferritinemia, hereditary, with congenital cataracts|hhcs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERFERRITINEMIA WITH OR WITHOUT CATARACT; HRFTC

Low match POTOCKI-SHAFFER SYNDROME


Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).

POTOCKI-SHAFFER SYNDROME Is also known as proximal 11p deletion syndrome|defect11 syndrome|pss|chromosome 11p11.2 deletion syndrome|11p11.2 deletion|p11pds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POTOCKI-SHAFFER SYNDROME

Low match PROLIDASE DEFICIENCY


Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.

PROLIDASE DEFICIENCY Is also known as hyperimidodipeptiduria

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PROLIDASE DEFICIENCY

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 NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4


Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Low match AARSKOG-SCOTT SYNDROME; AAS


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

Low 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

Top 5 symptoms//phenotypes associated to Anemia and Single transverse palmar crease

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Anemia and Single transverse palmar crease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Downslanted palpebral fissures Micrognathia Strabismus Clinodactyly Seizures Wide nasal bridge Cleft palate High palate Growth delay Short stature Intrauterine growth retardation Pulmonic stenosis Hepatomegaly Clinodactyly of the 5th finger Hernia Myopia Cataract Hypertelorism Convex nasal ridge Scoliosis Failure to thrive Behavioral abnormality Generalized hypotonia Epicanthus Intellectual disability, mild Obesity Syndactyly Short nose Tapered finger Ptosis Recurrent infections Brachydactyly Hypertension Abnormal facial shape

Rare Symptoms - Less than 30% cases


Iron deficiency anemia Visual impairment High forehead Hypothyroidism Delayed puberty Short neck Hyperactivity High myopia Hepatosplenomegaly Lymphedema Prominent nose Bilateral single transverse palmar creases Sensorineural hearing impairment Abnormality of the fingernails Ventricular septal defect Abnormality of the genital system Cutaneous syndactyly Dental crowding Inguinal hernia Asthma Congenital cataract Camptodactyly Flexion contracture Splenomegaly Pes planus Kyphosis Respiratory insufficiency Joint laxity Elevated hepatic transaminase Delayed speech and language development Hypermetropia Muscular hypotonia Nystagmus Thrombocytopenia Thick eyebrow Autistic behavior Abnormality of the pinna Autism Brachycephaly Depressed nasal bridge Progressive microcephaly Recurrent respiratory infections Hypospadias Low-set ears Short foot Hypodontia Short palm Cor triatriatum Pain Polymicrogyria Joint hypermobility Anteverted nares Depressivity Pectus excavatum Abnormal heart morphology Cirrhosis Alopecia Cleft upper lip Abdominal pain Umbilical hernia Intermittent thrombocytopenia Attention deficit hyperactivity disorder Neonatal sepsis Plagiocephaly Monocytosis Pneumonia Pulmonary arterial hypertension Renal agenesis Sepsis Neutropenia Pectus carinatum Hydronephrosis Patent ductus arteriosus Mitral regurgitation Midface retrusion Atrial septal defect Respiratory distress Muscle weakness Central hypothyroidism Mild microcephaly Sparse scalp hair Broad thumb Erythroid hypoplasia Abnormality of lipid metabolism Congenital neutropenia Giant platelets Hypoplasia of the thymus Prominent superficial veins Varicose veins Premature loss of teeth Long fingers Bronchiectasis Unilateral renal agenesis Failure to thrive in infancy Tented upper lip vermilion Cutis laxa Leukopenia Recurrent bacterial infections Lymphopenia Hypoplasia of the maxilla Hypoplasia of the corpus callosum Round face Hypoplasia of dental enamel Myelodysplasia Patent foramen ovale Sandal gap Narrow palate Elbow flexion contracture Narrow face Pachygyria Myeloid leukemia Cerebellar vermis hypoplasia Pancytopenia Sloping forehead Dental malocclusion Triangular face Talipes Facial asymmetry Clitoral hypertrophy Acute myeloid leukemia Hip dislocation Selective tooth agenesis Large basal ganglia Hypoplasia of proximal radius Abnormal finger flexion creases Ivory epiphyses Small anterior fontanelle Lumbar scoliosis Acute monocytic leukemia Dislocated radial head 11 pairs of ribs Abnormal cortical gyration Abnormally large globe Chromosome breakage Cone-shaped epiphyses of the phalanges of the hand Severe intrauterine growth retardation Proportionate short stature Synophrys Leukemia Generalized-onset seizure Broad foot Broad philtrum Volvulus Large earlobe Widow's peak Short 5th finger Genu recurvatum Hypoplasia of the odontoid process Osteochondritis Dissecans Shawl scrotum Macrocytic anemia Broad palm Interstitial pulmonary abnormality Mild short stature Radial deviation of finger Increased intracranial pressure Hyperextensibility of the finger joints Frontoparietal polymicrogyria Small for gestational age Upslanted palpebral fissure Microtia Blepharophimosis Postnatal growth retardation Hyperlordosis Intellectual disability, moderate Retrognathia Posteriorly rotated ears Prominent umbilicus Severe short stature Pes cavus Delayed skeletal maturation Abnormality of the skeletal system Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Spondyloepiphyseal dysplasia Prolonged neonatal jaundice Microretrognathia Downturned corners of mouth Polycystic ovaries Hypoplastic toenails Non-midline cleft lip Microcytic anemia Increased serum ferritin Abnormality of the elbow Ectopic anus Nuclear cataract Pulverulent cataract Micropenis Telecanthus Short philtrum Prominent nasal bridge Broad forehead Broad nasal tip Webbed neck Depressed nasal tip Multiple exostoses Parietal foramina Congenital ptosis Craniofacial dysostosis Sparse lateral eyebrow Decreased skull ossification Exostoses Underdeveloped nasal alae Turricephaly Aniridia Self-injurious behavior Nephroblastoma Sparse eyebrow Wormian bones Hypoplasia of penis Anal atresia Intellectual disability, severe Jaundice Motor delay Conductive hearing impairment Highly arched eyebrow Bifid uvula Long eyelashes Brittle hair Flat occiput Increased number of teeth Bilateral conductive hearing impairment Feeding difficulties Hyperreflexia Tremor Hypertonia Cerebral atrophy Aggressive behavior Severe global developmental delay Type I transferrin isoform profile Joint stiffness Low-set, posteriorly rotated ears Photophobia Macrotia Abnormality of cardiovascular system morphology Reduced antithrombin III activity Skin dimples Apnea Hypoproteinemia Inverted nipples Infantile spasms Finger clinodactyly Exotropia Poor speech Cutaneous syndactyly between fingers 2 and 5 Vomiting Decreased testicular size Absent speech Aplasia/Hypoplasia of the skin Abnormality of the immune system Hypoplasia of the zygomatic bone Chronic lung disease Concave nasal ridge White forelock Abnormality of the middle ear Poliosis Facial hirsutism Crusting erythematous dermatitis Diffuse telangiectasia Recurrent cystitis Ataxia Long philtrum Cerebellar hypoplasia Elevated erythrocyte sedimentation rate Neonatal hypotonia Febrile seizures Smooth philtrum Toe syndactyly Dolichocephaly Abnormal cardiac septum morphology Protruding ear Thin upper lip vermilion Rod-cone dystrophy Gastroesophageal reflux Polyhydramnios Mandibular prognathia Narrow mouth Gait ataxia Osteoporosis Abnormality of the hip bone Petechiae Diarrhea Papule Hirsutism Dry skin Arachnodactyly Genu valgum Carious teeth Pruritus Skin rash Dehydration Erythema Proptosis Hyperkeratosis Prominent forehead Abnormality of metabolism/homeostasis Malar flattening Palmoplantar keratoderma Hepatitis Increased antibody level in blood Low anterior hairline Osteomyelitis Psoriasiform dermatitis Systemic lupus erythematosus Reduced bone mineral density Generalized hirsutism Recurrent pneumonia Skin ulcer Low posterior hairline Abnormality of retinal pigmentation Abnormal lung morphology Thin skin Inflammatory abnormality of the skin Depressed nasal ridge Cutaneous photosensitivity Hypoplasia of proximal fibula



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