Neoplasm, and Short phalanx of finger

Diseases related with Neoplasm and Short phalanx of finger

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


Top matches:

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 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 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

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Other less relevant matches:

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

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

Low match BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME


Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E (see this term) with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.

BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME Is also known as bilginturan syndrome|brachydactyly type e, with short stature and hypertension|brachydactyly with hypertension|brachydactyly, type e, with short stature and hypertension|bilginturan brachydactyly

Related symptoms:

  • Short stature
  • Hypertension
  • Brachydactyly
  • Retinopathy
  • Stroke


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRACHYDACTYLY-ARTERIAL HYPERTENSION SYNDROME

Low match FEINGOLD SYNDROME TYPE 2


Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1; see this term) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.

FEINGOLD SYNDROME TYPE 2 Is also known as brachydactyly with short stature and microcephaly|fs2|fglds2|brunner-winter syndrome type 2|brachydactyly-short stature-microcephaly syndrome|microcephaly-digital anomalies-normal intelligence syndrome type 2|microcephaly-intellectual disability-tracheoes

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FEINGOLD SYNDROME TYPE 2

Low match CRANIOSYNOSTOSIS-DENTAL ANOMALIES


Craniosynostosis-dental anomalies is a rare, genetic, cranial malformation syndrome characterized by premature fusion of multiple or all calvarial sutures (resulting in variable abnormal shape of the head), midface hypoplasia, delayed and ectopic tooth eruption and supernumerary teeth. Associated facial dysmorphism includes proptosis, hypertelorism, beaked nose, and relative prognathism. Variable digital anomalies (e.g. finger and/or toe syndactyly, clinodactyly), short stature, cognitive and/or motor delay, high palate, ear deformity and conductive hearing loss have also been reported.

CRANIOSYNOSTOSIS-DENTAL ANOMALIES Is also known as kreiborg-pakistani syndrome

Related symptoms:

  • Hypertelorism
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion
  • Clinodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS-DENTAL ANOMALIES

Low match BRACHYDACTYLY, TYPE A1, C; BDA1C


Related symptoms:

  • Short stature
  • Brachydactyly
  • Talipes equinovarus
  • Short distal phalanx of finger
  • Bilateral talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about BRACHYDACTYLY, TYPE A1, C; BDA1C

Low match BRACHYDACTYLY TYPE B


Brachydactyly type B (BDB) is a very rare congenital malformation characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails.

Related symptoms:

  • Finger syndactyly
  • Short distal phalanx of finger
  • Short foot
  • Short metacarpal
  • Synostosis of carpal bones


SOURCES: ORPHANET MENDELIAN

More info about BRACHYDACTYLY TYPE B

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

Symptoms // Phenotype % cases
Brachydactyly Common - Between 50% and 80% cases
Short distal phalanx of finger Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
Clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Short middle phalanx of finger Cutaneous syndactyly Abnormality of the skeletal system Short middle phalanx of the 5th finger Short metacarpal Finger syndactyly Midface retrusion Dental malocclusion Absent fingernail Hypoplasia of the maxilla Delayed eruption of teeth Craniosynostosis Proptosis Brachycephaly Type B brachydactyly Abnormality of the dentition 2-3 toe syndactyly Hypertelorism Aplasia of the middle phalanx of the hand Abnormal vertebral morphology Short thumb Intellectual disability, mild Microcephaly Hearing impairment Intellectual disability Hypertensive retinopathy Trigonocephaly Hallux valgus Short foot Lambdoidal craniosynostosis Short middle phalanx of the 3rd finger Short middle phalanx of the 4th finger Short middle phalanx of the 2nd finger Short 1st metacarpal Fibular hypoplasia Bilateral talipes equinovarus Talipes equinovarus Flat forehead Synostosis of carpal bones Scotoma Broad hallux phalanx Fingernail dysplasia Sagittal craniosynostosis Symphalangism affecting the phalanges of the hand Coronal craniosynostosis Proportionate short stature Papilledema Scaphocephaly Increased number of teeth Turricephaly Erythroid hyperplasia Cone-shaped epiphysis Short middle phalanx of toe Short proximal phalanx of finger Arachnodactyly Clinodactyly of the 5th finger Delayed speech and language development Shortening of all middle phalanges of the toes Brachytelomesophalangy Shortening of all distal phalanges of the toes Osteoarthritis of the small joints of the hand Short distal phalanx of toe Short distal phalanx of the thumb Arthropathy Disproportionate short stature Radial deviation of finger Osteoarthritis Skeletal dysplasia Broad distal phalanx of the hallux Type D brachydactyly Broad distal phalanx of the thumb Broad distal phalanx of finger Short 2nd finger Poor motor coordination Stroke Macrocytic anemia Retinopathy Hypertension Anonychia Congenital hypoplastic anemia Increased total bilirubin Poikilocytosis Anemia of inadequate production Anisocytosis Reticulocytosis Small nail Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Pallor Hepatosplenomegaly Jaundice Splenomegaly Hepatomegaly Anemia Ptosis Short distal phalanx of the 2nd finger Short proximal phalanx of thumb 2nd-5th toe middle phalangeal hypoplasia



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