Autoimmunity, and Short phalanx of finger

Diseases related with Autoimmunity and Short phalanx of finger

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


Top matches:

Low match CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1


CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1 Is also known as chondrodysplasia punctata, brachytelephalangic|cpxr

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE


Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE Is also known as sedaghatian chondrodysplasia|metaphyseal chondrodysplasia, congenital lethal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE

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

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Other less relevant matches:

Low match TN POLYAGGLUTINATION SYNDROME; TNPS


Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Autoimmunity
  • Leukemia
  • Hemolytic anemia


SOURCES: MESH OMIM MENDELIAN

More info about TN POLYAGGLUTINATION SYNDROME; TNPS

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 BRACHYDACTYLY, TYPE D; BDD


This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. [HPO:probinson]

BRACHYDACTYLY, TYPE D; BDD Is also known as stub thumb

Related symptoms:

  • Brachydactyly
  • Short distal phalanx of finger
  • Short phalanx of finger
  • Broad distal phalanx of finger
  • Broad distal phalanx of the thumb


SOURCES: OMIM MESH MENDELIAN

More info about BRACHYDACTYLY, TYPE D; BDD

Low match COFFIN-SIRIS SYNDROME 5; CSS5


Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Low match CHITAYAT SYNDROME; CHYTS


Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Abnormal facial shape
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about CHITAYAT SYNDROME; CHYTS

Low match FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY


Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Skeletal dysplasia
  • Short distal phalanx of finger
  • Osteoarthritis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY

Low match BRACHYDACTYLY, TYPE A1, D; BDA1D


Related symptoms:

  • Delayed speech and language development
  • Brachydactyly
  • Syndactyly
  • Clinodactyly
  • Clinodactyly of the 5th finger


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, D; BDA1D

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

Symptoms // Phenotype % cases
Short distal phalanx of finger Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Short stature Microcephaly Anteverted nares Seizures

Rare Symptoms - Less than 30% cases


Systemic lupus erythematosus Cerebellar hypoplasia Talipes equinovarus Generalized hypotonia Anemia Arachnodactyly Intellectual disability Short middle phalanx of finger Syndactyly Clinodactyly Recurrent infections Disproportionate short stature Proptosis Atrial septal defect Dandy-Walker malformation Small nail Wide nose Thick lower lip vermilion Sparse scalp hair Dystrophic toenail Long eyelashes Low anterior hairline Sandal gap Hypoplastic toenails Slender finger Abnormal corpus callosum morphology Thick nasal alae Hypertelorism Thick eyebrow Ptosis Short philtrum Broad distal phalanx of the thumb Talipes Hypopigmentation of the skin Sparse and thin eyebrow Hypopigmented skin patches Profound global developmental delay Spotty hypopigmentation Anisopoikilocytosis Broad distal phalanx of finger Type D brachydactyly Wide mouth Broad distal phalanx of the hallux Feeding difficulties Intrauterine growth retardation Hypoplasia of the corpus callosum Absent speech Abnormal heart morphology Coarse facial features Thin upper lip vermilion Respiratory distress Retrognathia Long philtrum Brachytelomesophalangy Skeletal dysplasia Osteoarthritis Radial deviation of finger Arthropathy Short distal phalanx of toe Short middle phalanx of toe Osteoarthritis of the small joints of the hand Shortening of all distal phalanges of the toes Shortening of all middle phalanges of the toes Bronchospasm Delayed speech and language development Clinodactyly of the 5th finger Short middle phalanx of the 5th finger Short proximal phalanx of finger Short 2nd finger Short distal phalanx of the thumb Poor motor coordination Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short proximal phalanx of thumb Intercostal retractions Parietal bossing Midface retrusion Thick vermilion border Pectus excavatum Recurrent respiratory infections Dyspnea Polyhydramnios Sparse hair Respiratory tract infection Finger syndactyly Abnormality of the foot Highly arched eyebrow Bronchomalacia Broad thumb Tachypnea Abnormality of the hand Hallux valgus Interstitial pulmonary abnormality Exertional dyspnea Abnormality of digit Tracheomalacia Short columella Small for gestational age Leukopenia Telecanthus Hypocalcemia Short palm Short metacarpal Limb undergrowth Abnormality of the ribs Pachygyria Rhizomelia Short toe Short ribs Accelerated skeletal maturation Platyspondyly Lissencephaly Short long bone Atrioventricular block Poor suck Redundant skin Cone-shaped epiphysis Metaphyseal irregularity Abnormality of neuronal migration Narrow chest Apnea Cortical gyral simplification Epiphyseal stippling Hearing impairment Failure to thrive Cataract Short nose Hypogonadism Ichthyosis Anosmia Abnormality of the vertebral column Vitamin K deficiency Respiratory failure Short nasal septum Maternal autoimmune disease Muscular hypotonia Short neck Respiratory insufficiency Arrhythmia Delayed skeletal maturation Agenesis of corpus callosum Posteriorly rotated ears Thoracic hypoplasia Short finger Osteopenia 11 thoracic vertebrae Abnormality of the scapula Rhizomelic arm shortening Cone-shaped metacarpal epiphyses Iliac crest serration Focal lissencephaly Widened sacrosciatic notch Irregular tarsal bones Horizontal inferior border of scapula Anonychia Myocardial necrosis Thrombocytopenia Leukemia Hemolytic anemia Abnormal erythrocyte morphology Growth delay Frontal bossing Severe short stature High forehead Large posterior fontanelle Long fibula Metaphyseal dysplasia Myocarditis Turricephaly Heart block Cardiorespiratory arrest Cone-shaped epiphyses of the phalanges of the hand Delayed epiphyseal ossification Hyperphosphatemia Flat acetabular roof Hypoplastic iliac wing 11 pairs of ribs Pulmonary hemorrhage Flared iliac wings Spondylometaphyseal dysplasia Metaphyseal chondrodysplasia Metaphyseal cupping Porencephalic cyst Coronal cleft vertebrae Narrow greater sacrosciatic notches Third degree atrioventricular block Cupped ribs Short distal phalanx of the 2nd finger



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