Brachydactyly, and Type I diabetes mellitus

Diseases related with Brachydactyly and Type I diabetes mellitus

In the following list you will find some of the most common rare diseases related to Brachydactyly and Type I diabetes mellitus that can help you solving undiagnosed cases.


Top matches:

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium match MARINESCO-SJÖGREN SYNDROME


Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MARINESCO-SJÖGREN SYNDROME

Medium match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

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Other less relevant matches:

Medium match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Medium match ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011).For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see {305100}.

ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B Is also known as eda|ectodermal dysplasia, hypohidrotic|hed|ectodermal dysplasia, anhidrotic

Related symptoms:

  • Depressed nasal bridge
  • Hypertension
  • Frontal bossing
  • Hyperhidrosis
  • Hyperkeratosis


SOURCES: OMIM MENDELIAN

More info about ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE; ECTD10B

Medium match X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA


Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Low match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Low match RABSON-MENDENHALL SYNDROME


Rabson-Mendenhall syndrome belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes; see these terms).

Related symptoms:

  • Short stature
  • Peripheral neuropathy
  • Brachydactyly
  • Intrauterine growth retardation
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about RABSON-MENDENHALL SYNDROME

Low match ERYTHROKERATODERMIA VARIABILIS


The erythrokeratodermias are a clinically variable and genetically heterogeneous group of inherited disorders characterized by widespread erythematous plaques, stationary or migratory, associated with nonmigratory hyperkeratoses (summary by Ishida-Yamamoto et al., 1997). The condition is usually present at birth or occurs during the first year but may begin later in childhood or even in early adulthood. Lesions preferentially affect the face, buttocks, and extensor surfaces of the limbs. Palmoplantar keratoderma occurs in about half the cases, but hair, nails, and teeth are not affected (summary by Macfarlane et al., 1991). Genetic Heterogeneity of Erythrokeratodermia Variabilis et ProgressivaSee EKVP2 (OMIM ), caused by mutation in the GJB4 gene (OMIM ); EKVP3 (OMIM ), caused by mutation in the GJA1 gene (OMIM ); EKVP4 (OMIM ), caused by mutation in the KDSR gene (OMIM ); and EKVP5 (OMIM ), caused by mutation in the KRT83 gene (OMIM ).

ERYTHROKERATODERMIA VARIABILIS Is also known as psek|erythrokeratodermia variabilis et progressiva|ekvp|ekv|erythrokeratodermia variabilis, mendes da costa type|erythrokeratodermia figurata, congenital familial, in plaques|erythrokeratodermia, progressive symmetric|erythrokeratodermia variabilis with e

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ERYTHROKERATODERMIA VARIABILIS

Low match INSULIN-RESISTANCE SYNDROME TYPE A


Type A insulin-resistance syndrome belongs to the group of extreme insulin-resistance syndromes (which includes leprechaunism, the lipodystrophies, Rabson-Mendenhall syndrome and type B insulin resistance syndrome; see these terms) and is characterized by the triad of hyperinsulinemia, acanthosis nigricans (skin lesions associated with insulin resistance), and signs of hyperandrogenism in females without lipodystrophy and who are not overweight.

INSULIN-RESISTANCE SYNDROME TYPE A Is also known as diabetes mellitus, insulin-resistant, with acanthosis nigricans, type a|insulin receptor, defect in, with insulin-resistant diabetes mellitus and acanthosis nigricans|iran, type a

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Brachydactyly
  • Abnormality of the dentition
  • Intellectual disability, mild


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INSULIN-RESISTANCE SYNDROME TYPE A

Top 5 symptoms//phenotypes associated to Brachydactyly and Type I diabetes mellitus

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Epicanthus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Brachydactyly and Type I diabetes mellitus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Depressed nasal bridge Severe short stature Growth delay Intrauterine growth retardation Microcephaly Hypothyroidism Hyperkeratosis Frontal bossing Hypertrichosis Hearing impairment Pes planus Hypogonadism Cataract High palate Ptosis Failure to thrive Hip dislocation Anemia Generalized hirsutism Hypergonadotropic hypogonadism Dry skin Hepatomegaly Abnormality of the dentition Abnormal heart morphology Microdontia Fever Hypotrichosis Epidermal acanthosis Weight loss Hyperhidrosis Mandibular prognathia Abnormality of the skeletal system Obesity Hypertension

Rare Symptoms - Less than 30% cases


Insulin resistance Exocrine pancreatic insufficiency Insulin-resistant diabetes mellitus Pancreatic hypoplasia Ketoacidosis Telangiectasia Dysphonia Hyperinsulinemia Coxa valga Short thumb Ventriculomegaly Azoospermia Thickened skin Joint stiffness Acanthosis nigricans Neutropenia Polycystic ovaries Cryptorchidism Respiratory distress Growth hormone excess Periorbital hyperpigmentation Hyperreflexia Abnormality of cardiovascular system morphology Short metatarsal Abnormality of the kidney Alopecia Recurrent fractures Short nose Irritability Proptosis Abnormality of the testis Hepatosplenomegaly Irregular hyperpigmentation Blue sclerae Intellectual disability, mild Hypospadias Everted upper lip vermilion Upslanted palpebral fissure Abnormal cardiac septum morphology Delayed skeletal maturation Clinodactyly of the 5th finger Renal insufficiency Atrial septal defect Anteverted nares Hydrocephalus Delayed puberty Abnormality of the foot Hyperglycemia Periorbital wrinkles Patent ductus arteriosus Pectus carinatum Scoliosis Hypohidrotic ectodermal dysplasia Short metacarpal Flexion contracture Underdeveloped nasal alae Spasticity Eczema Muscular hypotonia Abnormal facial shape Hypohidrosis Strabismus Thin skin Nystagmus Ataxia Depressed nasal ridge Hoarse voice Accelerated skeletal maturation Generalized hypotonia Seizures Chronic rhinitis Ectodermal dysplasia Hypodontia Delayed eruption of teeth Cone-shaped epiphyses of the phalanges of the hand Rhinitis Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Sparse hair Sparse and thin eyebrow Peripheral neuropathy Sparse body hair Agenesis of permanent teeth Hypoplastic nipples Aplasia/Hypoplasia of the eyebrow Reticulocytopenia Anhidrosis Soft skin Absent eyebrow Anodontia Palmoplantar hyperkeratosis Kyphosis Hypertonia Heat intolerance Sparse eyelashes Intellectual disability, severe Anterior hypopituitarism Hypoplasia of the maxilla Absent nipple Anhidrotic ectodermal dysplasia Anal atresia Aganglionic megacolon Facial asymmetry Recurrent urinary tract infections Lymphoma Pancytopenia Choanal atresia Astigmatism Short palpebral fissure Oligohydramnios Sloping forehead Tetralogy of Fallot Cafe-au-lait spot Vertigo Macroorchidism Prolactin excess Abnormality of skin pigmentation Renal agenesis Bruising susceptibility Hypopigmentation of the skin Abnormality of the genital system Carious teeth Toe syndactyly Short chin Abnormal oral mucosa morphology Concave nail Conical tooth Absent eyelashes Brittle hair Prominent supraorbital ridges Sparse scalp hair Hypoplastic-absent sebaceous glands Menstrual irregularities Respiratory tract infection Prominent forehead Recurrent respiratory infections Immunodeficiency Feeding difficulties Oligodontia Aplasia/Hypoplastia of the eccrine sweat glands Neoplasm Dolichocephaly Carcinoma Finger syndactyly Small for gestational age Leukemia Abnormality of the liver Postnatal growth retardation Abnormality of the eye Hypertrophic cardiomyopathy Umbilical hernia Micrognathia Thrombocytopenia Headache Microphthalmia Congestive heart failure Fatigue Visual impairment Cleft palate Taurodontia Multiple cafe-au-lait spots Abnormal vertebral morphology Abnormality of the preputium Advanced eruption of teeth Type II diabetes mellitus Long penis Thick nail Prematurely aged appearance Abnormality of the thyroid gland Precocious puberty Coarse hair Subcutaneous nodule Proteinuria Coarse facial features Pyridoxine-responsive sideroblastic anemia Abnormality of the abdominal wall Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Abnormality of the upper urinary tract Female pseudohermaphroditism Decreased fertility in males Neoplasm of the skin Macrotia Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypergranulosis Macule Hirsutism Muscle cramps Hypermelanotic macule Scaling skin Abnormality of the nail Glaucoma Abnormality of the hair Cutaneous photosensitivity Abnormal blistering of the skin Palmoplantar keratoderma Tapered finger Pruritus Corneal opacity Skin rash Macroglossia Narrow forehead Protruding ear Erythema Chromosomal breakage induced by crosslinking agents Clubbing of toes Spina bifida Glucose intolerance External ear malformation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Hypoplasia of the ulna Tracheoesophageal fistula Chromosome breakage Triphalangeal thumb Myelodysplasia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Horseshoe kidney Bone marrow hypocellularity Hearing abnormality Abnormal eyelid morphology Partial duplication of thumb phalanx Abnormality of chromosome stability Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Increased number of teeth Abnormal aortic morphology Generalized hyperpigmentation Abnormal localization of kidney Abnormality of the ulna Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Seborrheic keratosis Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Aplastic anemia Bronchiectasis Retroperitoneal fibrosis Muscle flaccidity Gait disturbance Motor delay Pain Abnormal aldolase level Aplasia/Hypoplasia involving the skeletal musculature Abnormal lactate dehydrogenase activity Cerebellar cortical atrophy Metatarsus valgus Abnormal levels of creatine kinase in blood Abnormality of the cerebellar vermis Muscle fiber necrosis Osteoporosis Autophagic vacuoles Avascular necrosis of the capital femoral epiphysis Mild global developmental delay Abnormality of finger Centrally nucleated skeletal muscle fibers Rimmed vacuoles External genital hypoplasia Myopathic facies Congenital muscular dystrophy Cubitus valgus Abnormality of the metacarpal bones Diarrhea Brachycephaly Sandal gap Coma Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Wormian bones Abnormality of epiphysis morphology Abnormality of the metaphysis Hepatitis Dehydration Triangular face Nephropathy Acidosis Hepatic failure Thin vermilion border Genu valgum Hypermetropia Platyspondyly Hyperlordosis Elevated hepatic transaminase Hypoglycemia Jaundice Osteopenia High forehead Infantile muscular hypotonia Muscle stiffness Steatorrhea Cone-shaped epiphysis Optic atrophy Skeletal muscle atrophy Dysarthria Muscle weakness Red hair Fair hair Blue irides Spinal canal stenosis Congenital hypothyroidism Mild short stature Increased intracranial pressure Cerebellar atrophy Short phalanx of finger Osteoarthritis Round face Asthma Small hand Skeletal dysplasia Autism Hyperactivity Midface retrusion Malar flattening Delayed speech and language development Myopathy Cerebral atrophy Sensorimotor neuropathy Congenital cataract Limb ataxia Progressive muscle weakness Specific learning disability Hip dysplasia Decreased antibody level in blood Progressive cerebellar ataxia Microcornea Dyskinesia Short palm Smooth philtrum Synophrys Muscular dystrophy Recurrent infections Neurological speech impairment Intellectual disability, moderate Rigidity Deeply set eye Kyphoscoliosis Gait ataxia Cerebral cortical atrophy Cerebellar hypoplasia Elevated serum creatine phosphokinase Hyporeflexia Areflexia Neurodevelopmental delay Glycosuria Upper eyelid edema Osteolysis Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Lipodystrophy Sleep apnea Plagiocephaly Elbow flexion contracture Scleroderma Aspiration Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Primary amenorrhea Hypertriglyceridemia Epistaxis Cardiomegaly Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Lipoatrophy Polycythemia Decreased testicular size Broad finger Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Abnormality of cardiovascular system physiology Episodic fever Histiocytosis Skin nodule Nasal obstruction Recurrent pharyngitis Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Severe sensorineural hearing impairment Amenorrhea Wide intermamillary distance Hyperuricemia Narrow iliac wings Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Central hypothyroidism Flattened epiphysis Thoracolumbar kyphosis Ivory epiphyses of the phalanges of the hand Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Irregular vertebral endplates Overweight Hypoplasia of the odontoid process Abnormality of pancreas morphology Intracerebral periventricular calcifications Growth hormone deficiency Conductive hearing impairment Full cheeks Polyneuropathy Flat face Cleft upper lip Ichthyosis Lymphadenopathy Malabsorption Retinopathy Apnea Camptodactyly Low-set, posteriorly rotated ears Dyspnea Irregular tarsal ossification Micropenis Posteriorly rotated ears Pneumonia Clinodactyly Hernia Splenomegaly Edema Ventricular septal defect Wide nasal bridge Sensorineural hearing impairment Ivory epiphyses of the toes Generalized hypertrichosis



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