Brachydactyly, and Hyperglycemia

Diseases related with Brachydactyly and Hyperglycemia

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


Top matches:

Medium match SHORT SYNDROME


SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly (see this term) and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.

SHORT SYNDROME Is also known as lipodystrophy-rieger anomaly-diabetes syndrome|short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay|aarskog-ose-pande syndrome|lipodystrophy, partial, with rieger anomaly and short stature|rieger anomaly-partial

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SHORT 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

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

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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

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Low match INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME


Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).

INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME Is also known as mrd37|mental retardation, autosomal dominant 37

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME

Low match MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA


Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009).See also MAD type B (MADB ), which is caused by mutation in the ZMPSTE24 gene (OMIM ).

MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA Is also known as craniomandibular dermatodysostosis|lipodystrophy, type a, associated with mandibuloacral dysplasia

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY; MADA

Low match HYDRANENCEPHALY


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981).For a discussion of genetic heterogeneity of Kabuki syndrome, see KABUK1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDRANENCEPHALY

Low match GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY


GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY Is also known as growth hormone insensitivity due to postreceptor defect|laron syndrome due to postreceptor defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

Low match PRADER-WILLI SYNDROME DUE TO A POINT MUTATION


SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Brachydactyly and Hyperglycemia

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Brachydactyly and Hyperglycemia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Seizures

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Severe short stature

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Hypoglycemia Diabetes mellitus Delayed skeletal maturation Microcephaly Micrognathia Intrauterine growth retardation Microdontia Motor delay Delayed puberty Blue sclerae Failure to thrive Prematurely aged appearance Myopia Strabismus Increased body weight Epicanthus High pitched voice Epidermal acanthosis Insulin-resistant diabetes mellitus Lipodystrophy Abnormality of the kidney Insulin resistance Thin skin Depressed nasal bridge Hyperlordosis Obesity Brachycephaly Gastroesophageal reflux Posteriorly rotated ears Flexion contracture Mandibular prognathia Narrow mouth Hyperkeratosis Ptosis Feeding difficulties Anteverted nares Respiratory distress Atrial septal defect Short nose Constipation Bilateral sensorineural hearing impairment High forehead Hernia Sensorineural hearing impairment Abnormal heart morphology Alopecia Frontal bossing Hypotrichosis Low-set ears Delayed eruption of teeth Prominent forehead Clinodactyly Dental malocclusion

Rare Symptoms - Less than 30% cases


Proptosis Narrow palm Autism Apnea Progeroid facial appearance Pancreatic hypoplasia Retrognathia Scoliosis Camptodactyly Neoplasm Broad nasal tip Recurrent fractures Micropenis Dehydration Ketoacidosis Exocrine pancreatic insufficiency Edema Depressivity Pneumonia Weight loss Wormian bones Type I diabetes mellitus Hypogonadism Open mouth Abnormality of the skin Poor suck Neonatal hypotonia Nystagmus Hypertrichosis Iris coloboma Hirsutism Dental crowding Astigmatism Smooth philtrum Hyperinsulinemia Coloboma Sparse hair Postnatal growth retardation Feeding difficulties in infancy Acanthosis nigricans Conductive hearing impairment Ventricular septal defect Thin upper lip vermilion Pes planus Coarse facial features Cataract Wide nasal bridge Abnormality of the outer ear Absent speech Recurrent infections Abnormality of the dentition Hypoplasia of the corpus callosum Midface retrusion Joint stiffness Ventriculomegaly Hypermetropia Coarctation of aorta Macrotia Hyperpigmentation of the skin Wide intermamillary distance Hypoplasia of penis Reduced subcutaneous adipose tissue Lipoatrophy Osteolysis Depressed nasal ridge Hip dislocation Osteoarthritis Anemia Hypohidrosis Short toe Growth hormone deficiency Glucose intolerance Pain Hypercholesterolemia Reduced number of teeth Muscular hypotonia Downturned corners of mouth Truncal obesity Hypertriglyceridemia Deeply set eye Underdeveloped supraorbital ridges Abnormality of the elbow Aplasia/Hypoplasia involving the nose Full cheeks Hepatomegaly Microcornea Osteoporosis Decreased body weight Joint laxity Triangular face Hepatosplenomegaly Behavioral abnormality Nephrocalcinosis Hypothyroidism Telecanthus Upslanted palpebral fissure Hypoplastic nasal bridge Kyphosis Sleep apnea Diarrhea Short neck Hypodontia Upper eyelid edema Large fontanelles Stiff skin Abnormality of the endocrine system Abnormality of the skull Congenital muscular dystrophy Atherosclerosis Abnormality of cardiovascular system physiology Nephrotic syndrome Cervical lymphadenopathy Seborrheic keratosis Sparse scalp hair Dermal atrophy Chronic rhinitis Glomerulosclerosis Hyperlipidemia Retroperitoneal fibrosis Reticulocytopenia Bilateral camptodactyly Abnormality of skin pigmentation Episcleritis Snoring Self-injurious behavior Focal impaired awareness seizure Abnormal electroretinogram Hyperplasia of the maxilla Cone/cone-rod dystrophy Pointed chin Cerebral visual impairment Optic atrophy Focal-onset seizure Myelofibrosis Corneal arcus Delayed myelination Blindness Absent eyebrow Cerebral atrophy Short philtrum Hyperactivity Abnormality of cardiovascular system morphology Rod-cone dystrophy Generalized lymphadenopathy Abnormality of visual evoked potentials Panniculitis Muscular dystrophy Broad finger Abnormality of the cardiovascular system Convex nasal ridge Round face Sepsis Short distal phalanx of finger Facial telangiectasia Nail dystrophy Scarring Facial hypotonia Paralysis Proximal muscle weakness Rigidity Hypospadias Myopathy Abnormality of the skeletal system Hypertension Muscle weakness Hypoglycemic seizures Congenital diaphragmatic hernia Aplasia/Hypoplasia of the clavicles Hyperostosis Cryptorchidism Small hand Inability to walk Thick eyebrow Talipes Arthrogryposis multiplex congenita Wide mouth Autistic behavior Polyhydramnios Hyperhidrosis Respiratory insufficiency Talipes equinovarus Lymphoid interstitial pneumonia Tapered finger Delayed menarche Immune dysregulation Concave nasal ridge Proportionate short stature External genital hypoplasia Keratitis Short long bone Lymphopenia Chronic diarrhea Abnormal lung morphology Eczema Short foot Sleep disturbance Cognitive impairment Polyphagia Temperature instability Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Misalignment of teeth Fetal akinesia sequence Hyperventilation Hypoventilation Delayed ability to walk Short humerus Limited elbow extension Esotropia Rocker bottom foot Akinesia Impulsivity Trigonocephaly Failure to thrive in infancy Pterygium Adducted thumb Microretrognathia Exotropia Short palpebral fissure Decreased fetal movement Narrow forehead Progressive visual loss Eversion of lateral third of lower eyelids Focal segmental glomerulosclerosis Broad distal phalanx of finger Skin nodule Osteolytic defects of the distal phalanges of the hand Limb-girdle muscle atrophy Bird-like facies Mottled pigmentation Loss of subcutaneous adipose tissue in limbs Hematemesis Breast aplasia Wide cranial sutures Generalized lipodystrophy Narrow nasal ridge Hypoplasia of teeth Thin clavicles Prominent superficial veins Calcinosis Vertebral compression fractures Osteolytic defects of the phalanges of the hand Down-sloping shoulders Narrow nose Premature loss of teeth Short clavicles Arthropathy Spinal rigidity Hypermelanotic macule Delayed cranial suture closure Increased adipose tissue around the neck Foot pain Abnormality of the breast Atrioventricular canal defect Prominent fingertip pads Long hallux Sparse lateral eyebrow Generalized joint laxity Short 5th finger Depressed nasal tip Short columella Neonatal hypoglycemia Central hypotonia Natal tooth Long palpebral fissure Cupped ear Acroosteolysis of distal phalanges (feet) Long eyelashes Recurrent otitis media Otitis media Highly arched eyebrow Pulmonic stenosis Protruding ear Cleft palate Stiff elbow Foamy urine Progressive clavicular acroosteolysis Increased facial adipose tissue Abnormality of the fingertips Histiocytosis Postprandial hyperglycemia Nasal obstruction Short thorax Renal tubular dysfunction Cone-shaped epiphyses of the phalanges of the hand Irregular vertebral endplates Overweight Hypoplasia of the odontoid process Hyperuricemia Glycosuria Steatorrhea Neurodevelopmental delay Abnormality of neuronal migration Acute hepatic failure Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Hepatitis Coma Neutropenia Nephropathy Barrel-shaped chest Multiple epiphyseal dysplasia Thin vermilion border Shortening of all middle phalanges of the fingers Peripheral neuropathy Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Chronic hepatic failure Thin bony cortex Atlantoaxial dislocation Decreased hip abduction Hip subluxation Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Hepatic failure Genu valgum Clinodactyly of the 5th finger Underdeveloped nasal alae Abnormality of the immune system Congenital glaucoma Radial deviation of finger Prominent supraorbital ridges Opacification of the corneal stroma Abnormality of dental enamel Short chin Congenital hip dislocation Abnormality of the face Short palm Megalocornea Joint hypermobility Joint hyperflexibility Neurological speech impairment Corneal opacity Small for gestational age Glaucoma Inguinal hernia Malar flattening Macrocephaly Delayed speech and language development Poor appetite Posterior embryotoxon Platyspondyly Hypoplastic facial bones Irritability Elevated hepatic transaminase Jaundice Osteopenia Acidosis Renal insufficiency Hypertonia Gait disturbance Spasticity Abnormality of the zygomatic bone Birth length less than 3rd percentile Hypoplasia of the iris Enlarged epiphyses Rieger anomaly Abnormality of the mandible Narrow naris Abnormal anterior chamber morphology Excessive wrinkled skin Dimple chin Abnormal pupil morphology Premature skin wrinkling Increased intraocular pressure Intellectual disability, severe Polydactyly Recurrent pharyngitis Cleft upper lip Primary amenorrhea Epistaxis Cardiomegaly Mitral valve prolapse Overgrowth Amenorrhea Decreased testicular size Polyneuropathy Flat face Ichthyosis Telangiectasia Lymphadenopathy Abnormality of the foot Malabsorption Pectus carinatum Retinopathy Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Dyspnea Patent ductus arteriosus Splenomegaly Bronchiectasis Gingival overgrowth Hydrocephalus Microcytic anemia Decreased serum testosterone level Communicating hydrocephalus Varicose veins Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Severe sensorineural hearing impairment Episodic fever Polycythemia Scleroderma Elevated erythrocyte sedimentation rate Gynecomastia Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Azoospermia Plagiocephaly Elbow flexion contracture Hypergonadotropic hypogonadism Aspiration Intellectual disability, mild Fever Abnormality of the nervous system Intestinal malrotation Coarse hair Narrow palate Generalized hirsutism Narrow face Preauricular skin tag Sparse and thin eyebrow Wide anterior fontanel Fine hair Optic disc pallor Abdominal distention Precocious puberty Single transverse palmar crease Thick vermilion border Postaxial polydactyly Long face Dry skin Carious teeth Blepharophimosis Abnormality of the pinna Muscular hypotonia of the trunk Proteinuria Polycystic ovaries Sparse eyebrow Hyperreflexia Hypocholesterolemia Onychauxis Long palm Laryngeal stridor Female pseudohermaphroditism Macrodontia Broad eyebrow Abnormality of the abdominal wall Abnormality of the upper urinary tract Diastema Advanced eruption of teeth Long penis Clitoral hypertrophy Thick nail Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Bell-shaped thorax Growth hormone excess Abnormality of the thyroid gland Metatarsus adductus Neonatal respiratory distress Intermittent hyperventilation



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