Brachydactyly, and Type II diabetes mellitus

Diseases related with Brachydactyly and Type II diabetes mellitus

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


Top matches:

Medium 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

Medium match LAURENCE-MOON SYNDROME


Laurence-Moon syndrome (LMS) is a very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about LAURENCE-MOON SYNDROME

Medium match SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME


Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME Is also known as soft syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHORT STATURE-ONYCHODYSPLASIA-FACIAL DYSMORPHISM-HYPOTRICHOSIS SYNDROME

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Other less relevant matches:

Medium match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Medium match DOWN SYNDROME


Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

DOWN SYNDROME Is also known as trisomy 21

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOWN SYNDROME

Medium match MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II


'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'

MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II Is also known as majewski osteodysplastic primordial dwarfism type ii|osteodysplastic primordial dwarfism, type ii|mopd ii|mopd type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II

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 RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME


SHRF is an autosomal recessive disorder characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment. Onset of the hearing and visual abnormalities, including retinitis pigmentosa, varies from birth to the second decade. Patients have mild intellectual disability and mild cerebellar atrophy with myelination defects on brain imaging (summary by Di Donato et al., 2016).

RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME Is also known as retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA-HEARING LOSS-PREMATURE AGING-SHORT STATURE-FACIAL DYSMORPHISM SYNDROME

Low match ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Cryptorchidism
  • Delayed speech and language development


SOURCES: ORPHANET MENDELIAN

More info about ACRODYSOSTOSIS WITH MULTIPLE HORMONE RESISTANCE

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

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Abnormality of the dentition Uncommon - Between 30% and 50% cases
Obesity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Intellectual disability, mild Mandibular prognathia Disproportionate short stature Abnormality of cardiovascular system morphology Scoliosis Alopecia Joint laxity Microcephaly Cataract Generalized hypotonia Cone-shaped epiphysis Growth delay Low-set ears Depressed nasal bridge Anteverted nares Short nose Severe short stature Short metacarpal High forehead Short distal phalanx of finger Sensorineural hearing impairment Strabismus Microtia Generalized hirsutism Congenital hypothyroidism Intrauterine growth retardation Dry skin Epidermal acanthosis Upslanted palpebral fissure Acanthosis nigricans Hearing impairment

Rare Symptoms - Less than 30% cases


Sparse hair Delayed speech and language development Delayed myelination Microdontia Thickened skin Hypospadias Short metatarsal Waddling gait Hypertelorism Prematurely aged appearance Prominent nose Scaling skin Flared metaphysis Broad nasal tip Downturned corners of mouth Hypoplastic iliac wing High pitched voice Hypothyroidism Anemia Precocious puberty Hypertension Glaucoma Limb undergrowth Growth hormone deficiency Myopia Short palm Joint hyperflexibility Skeletal dysplasia Abnormality of epiphysis morphology Malar flattening Delayed skeletal maturation Abnormality of the skeletal system Gait disturbance Limited elbow extension Clinodactyly of the 5th finger Abnormality of the metaphysis Spinal canal stenosis Micromelia Cryptorchidism Delayed puberty Abnormal facial shape Bilateral single transverse palmar creases Long philtrum Carious teeth Growth hormone excess Macroglossia Accelerated skeletal maturation Midface retrusion Hyperinsulinemia Polycystic ovaries Posteriorly rotated ears Postnatal growth retardation Osteopenia Hyperkeratosis Nystagmus Retrognathia Deeply set eye Low-set, posteriorly rotated ears Insulin-resistant diabetes mellitus Brachycephaly Hypertrichosis Developmental regression Epicanthus Reduced number of teeth Laryngomalacia Coxa vara Hypopigmented skin patches Narrow palpebral fissure Elevated calcitonin Coxa valga Cafe-au-lait spot Cerebral venous thrombosis Nasal speech Broad columella Hypoplastic vertebral bodies Severe postnatal growth retardation Aplasia/Hypoplasia of the earlobes Abnormality of the cerebral vasculature Short 1st metacarpal Hypoplastic scapulae Tracheal stenosis Increased intraocular pressure Radial bowing Severe intrauterine growth retardation Red hair Dilatation of the cerebral artery Proportionate short stature Multiple cafe-au-lait spots Slender long bone Tibial bowing Aplasia/Hypoplasia of the eyebrow Short middle phalanx of finger Abnormality of dental morphology Truncal obesity Hip dysplasia Hypoplasia of dental enamel Seizures Atrial septal defect Hypoplasia of the corpus callosum Ventriculomegaly Downslanted palpebral fissures Absent/hypoplastic paranasal sinuses Wide nasal bridge Micrognathia Acute megakaryocytic leukemia Headache Left-to-right shunt Round ear Brushfield spots Transient myeloproliferative syndrome Crackles Atlantoaxial instability Neutrophilia Abnormality of the fontanelles or cranial sutures Vomiting Dilatation Hemiparesis Full cheeks Sparse scalp hair Fine hair Sloping forehead Long clavicles Convex nasal ridge Underdeveloped nasal alae Narrow vertebral interpedicular distance Abnormality of skin pigmentation Hypoplasia of the nasal bone Low urinary cyclic AMP response to PTH administration Narrow chest Hypermetropia Prominent nasal bridge Stroke Attention deficit hyperactivity disorder Recurrent respiratory infections Patent ductus arteriosus Arterial stenosis Pseudoepiphyses of the metacarpals Ulnar bowing Abnormal blistering of the skin Hypermelanotic macule Palmoplantar hyperkeratosis Neoplasm of the skin Abnormality of the nail Abnormality of the hair Cutaneous photosensitivity Autism Round face Hyperactivity Specific learning disability Palmoplantar keratoderma Short phalanx of finger Short toe Tapered finger Pruritus Hypocalcemia Corneal opacity Macule Irregular hyperpigmentation Protruding ear Broad distal phalanx of finger Corneal dystrophy Progressive hearing impairment Broad thumb Short palpebral fissure Thin upper lip vermilion Rod-cone dystrophy Wide nasal base Cerebellar atrophy Abnormality of the testis Motor delay Visual impairment Patchy palmoplantar keratoderma Diffuse palmoplantar hyperkeratosis Diffuse palmoplantar keratoderma Generalized hyperkeratosis Hypogonadism Hypergranulosis Skin rash Duodenal stenosis Shortening of all distal phalanges of the fingers High iliac wings Alveolar process hypoplasia Overtubulated long bones Pseudohypoparathyroidism Generalized microdontia Straight clavicles Ivory epiphyses Projectile vomiting Proximal femoral epiphysiolysis Elevated circulating parathyroid hormone level Moyamoya phenomenon Thin clavicles Distal symphalangism Forearm undergrowth Pseudoepiphyses Large sella turcica Narrow pelvis bone Abnormality of female external genitalia Rootless teeth Hyperphosphatemia Erythema Advanced eruption of teeth Weight loss Increased intracranial pressure Hyperhidrosis Female pseudohermaphroditism Mild short stature Abnormality of the abdominal wall Abnormality of the upper urinary tract Long penis Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines Thick nail Abnormality of the thyroid gland Coarse hair Blue irides Fair hair Proteinuria Coarse facial features Peripheral neuropathy Shallow acetabular fossae Umbilical hernia Abnormality of the lymphatic system Kyphosis Short foot Sensory neuropathy Genu valgum Platyspondyly Hyperlordosis Arthritis Arthralgia Pain Lumbar hyperlordosis Hypoplastic sacrum Frontal balding Clitoral hypoplasia Breast hypoplasia Hypoplastic pelvis Oligospermia Low hanging columella Short finger Bilateral sensorineural hearing impairment Osteoarthritis Short femoral neck Spondyloepiphyseal dysplasia Genu recurvatum Upper limb undergrowth Hypoplasia of the odontoid process Abnormal joint morphology Metaphyseal dysplasia Abnormality of the hip bone Bowing of the legs Metaphyseal irregularity Rhizomelia Rickets Metaphyseal widening Epiphyseal dysplasia Genu varum Short long bone Disproportionate short-limb short stature Hypogonadotrophic hypogonadism Abnormal vertebral morphology Agenesis of permanent teeth Relative macrocephaly Beaking of vertebral bodies Prolactin excess Iris coloboma Finger syndactyly Renal insufficiency Ataxia Generalized hypertrichosis Menstrual irregularities Macroorchidism Ketoacidosis Hand polydactyly Generalized hyperpigmentation Increased number of teeth Insulin resistance Subcutaneous nodule Narrow forehead Muscle cramps Hirsutism Macrotia Hypoplasia of penis Congenital hepatic fibrosis Widely spaced teeth Small hand Azoospermia Pointed chin Gingival overgrowth Dental crowding Small nail Nail dysplasia Triangular face Long face Displacement of the external urethral meatus Dolichocephaly Severe global developmental delay Small for gestational age Wide mouth Prominent forehead Clinodactyly Macrocephaly Abnormality of the antitragus Delayed epiphyseal ossification Multiple epiphyseal dysplasia Myeloproliferative disorder Open mouth Alzheimer disease Cholelithiasis Breast carcinoma Renal hypoplasia/aplasia Sandal gap Narrow palate Aganglionic megacolon Depressed nasal ridge Decreased fertility Thick lower lip vermilion Postural instability Neutropenia Single transverse palmar crease Postaxial polydactyly Flat face Anal atresia Hypotrichosis Hydroureter Atrioventricular canal defect Hydronephrosis Thickened nuchal skin fold Short middle phalanx of the 5th finger Complete atrioventricular canal defect Pulmonary edema Hypoxemia Acute monocytic leukemia Senile plaques Double outlet right ventricle Acute lymphoblastic leukemia Broad palm Thrombocytosis Protruding tongue Polycythemia Neurofibrillary tangles Impaired pain sensation Abnormality of immune system physiology Abnormality of blood and blood-forming tissues Transposition of the great arteries Leukemia Conductive hearing impairment Enlarged joints Decreased testosterone in males Flared femoral metaphysis Cervical cord compression Cervical instability Premature osteoarthritis Cervical myelopathy Ulnar deviation of the wrist Atlantoaxial dislocation Hamartomatous polyposis Limited hip extension Carpal bone hypoplasia Myelopathy Ulnar deviation of the hand Decreased serum estradiol Small epiphyses Irregular epiphyses Decreased serum testosterone level Intestinal polyposis Irregular carpal bones Childhood onset short-limb short stature Narrow mouth Short neck Polydactyly Dementia Abnormal heart morphology Thrombocytopenia Recurrent infections Edema Hydrocephalus Cognitive impairment Lumbar spinal canal stenosis Muscular hypotonia Neoplasm Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Congenital craniofacial dysostosis



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