Autoimmunity, and Clinodactyly of the 5th finger

Diseases related with Autoimmunity and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Autoimmunity and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

Low match DIABETES MELLITUS, PERMANENT NEONATAL; PNDM


Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2


Proteasome-associated autoinflammatory syndrome-2 is an autosomal dominant disorder with onset in early infancy. Affected individuals develop severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency (summary by Poli et al., 2018).For a discussion of genetic heterogeneity of PRAAS, see PRAAS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Brachydactyly
  • Fever


SOURCES: OMIM MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

Low match SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY


Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

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Other less relevant matches:

Low match MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME


Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Low match MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24


Related symptoms:

  • Microcephaly
  • Clinodactyly
  • Clinodactyly of the 5th finger
  • Cerebellar vermis hypoplasia
  • Finger clinodactyly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE; MCPH24

Low match LIMB-MAMMARY SYNDROME


Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.

LIMB-MAMMARY SYNDROME Is also known as lms

Related symptoms:

  • Cleft palate
  • Syndactyly
  • Hypogonadism
  • Camptodactyly
  • Hypodontia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LIMB-MAMMARY SYNDROME

Low match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

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 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

Top 5 symptoms//phenotypes associated to Autoimmunity and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Clinodactyly Very Common - Between 80% and 100% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases
Finger clinodactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Delayed speech and language development Camptodactyly Syndactyly

Rare Symptoms - Less than 30% cases


Intellectual disability Lacrimal duct atresia Bifid uvula Inflammatory abnormality of the skin Failure to thrive Short stature Muscle weakness Stereotypy Hypodontia Ectodermal dysplasia Nail dysplasia Anemia Aggressive behavior Macrocephaly Frontal bossing Vomiting Split hand Dolichocephaly Intrauterine growth retardation Pneumonia Diabetes mellitus Split foot Wide nasal bridge Hypoplastic nipples Ectrodactyly Motor delay Type I diabetes mellitus Flexion contracture Proptosis Clumsiness Nephrolithiasis Oral-pharyngeal dysphagia Hip dislocation Hematuria Proximal placement of thumb Recurrent urinary tract infections Nephropathy Choreoathetosis Chorea Abnormality of extrapyramidal motor function Spastic gait Self-injurious behavior Cerebral palsy Dysarthria Irritability Hallux valgus Conical incisor Premature loss of permanent teeth Adermatoglyphia Microcephaly Cerebellar vermis hypoplasia Congenital microcephaly Cleft palate Hypogonadism Amenorrhea Primary amenorrhea Hypohidrosis Joint contracture of the hand Hypergonadotropic hypogonadism Gonadal dysgenesis Arthritis Scoliosis Muscular hypotonia Pain Spasticity Hyperreflexia Opisthotonus Dysphagia Hypertonia Behavioral abnormality Dystonia Intellectual disability, mild Renal insufficiency Rigidity Athetosis Hyperuricosuria Hyperuricemia Polycythemia Broad forehead Pulmonic stenosis Thin vermilion border Cyanosis Tetralogy of Fallot Ventricular hypertrophy Hemiparesis Sinusitis Increased body weight Easy fatigability Clubbing Heart murmur Preauricular pit Underdeveloped supraorbital ridges Paralysis Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Endocarditis Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Abnormal cardiac septum morphology Respiratory tract infection Self-mutilation Short 2nd finger Gout Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Lacrimal duct stenosis Excessive purine production Bladder stones Podagra Arachnodactyly Short middle phalanx of the 5th finger Short proximal phalanx of finger Short distal phalanx of the thumb Dyspnea Poor motor coordination Aplasia/Hypoplasia of the middle phalanx of the 2nd finger Short proximal phalanx of thumb Short distal phalanx of the 2nd finger Growth delay Cryptorchidism Ventricular septal defect Respiratory distress Congestive heart failure Abnormality of cardiovascular system morphology Patent ductus arteriosus Arrhythmia Abnormal heart morphology Recurrent respiratory infections Nail pits Skin ulcer Fingernail dysplasia Everted lower lip vermilion Beta-cell dysfunction Transient neonatal diabetes mellitus Thickened ears Elevated hemoglobin A1c Clinodactyly of the 4th finger Fever Edema Immunodeficiency Thrombocytopenia Pes planus Scarring Subcutaneous nodule Limb joint contracture Vasculitis Combined immunodeficiency Episodic fever Recurrent viral infections Periorbital edema Lymphadenitis Abnormal facial shape Low-set ears Hepatomegaly Diarrhea Splenomegaly Posteriorly rotated ears Pancreatic hypoplasia Autoimmune antibody positivity Hypothyroidism Hypsarrhythmia Ptosis Peripheral neuropathy Anteverted nares Short nose Long philtrum Abnormality of the nervous system Muscular hypotonia of the trunk Small for gestational age Confusion Downturned corners of mouth Dehydration Progressive neurologic deterioration Mild global developmental delay Aspiration Failure to thrive in infancy Bilateral ptosis Polydipsia Radial deviation of finger Hyperglycemia Polyuria Abnormality of the ear Abnormality of the immune system Prominent metopic ridge Ketoacidosis Aspiration pneumonia Respiratory failure Malabsorption Toenail dysplasia Abnormality of the nail Anal atresia Dry skin Oral cleft Wide intermamillary distance Microdontia Eczema Fine hair Cutaneous photosensitivity Sparse scalp hair Thin skin Abnormality of the face Conjunctivitis Hypotrichosis Oligodontia Dermal atrophy Melanocytic nevus Abnormality of dental morphology Freckling Alopecia of scalp Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Toe syndactyly Nail dystrophy Asthma Mandibular prognathia Hepatitis Abnormal lung morphology Chronic diarrhea Short chin Abnormal intestine morphology Relative macrocephaly Prominent occiput Chronic lung disease Interstitial pneumonitis High palate Downslanted palpebral fissures Prominent forehead Retrognathia Finger syndactyly Hepatosplenomegaly Anxiety Craniosynostosis Broad nasal tip Recurrent pneumonia Microretrognathia Scaphocephaly Abnormality of the dentition Midface retrusion Alopecia Hyperhidrosis Prominent nasal bridge Absence of the pulmonary valve



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