Brachydactyly, and Hypoglycemia

Diseases related with Brachydactyly and Hypoglycemia

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


Top matches:

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 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

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Other less relevant matches:

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

Low match DISTAL MONOSOMY 15Q


Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.

DISTAL MONOSOMY 15Q Is also known as monosomy 15q26|drayer syndrome|telomeric 15q deletion syndrome|distal 15q deletion syndrome|15q26 deletion syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DISTAL MONOSOMY 15Q

Low match NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR


Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Low match PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A


Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Hypoglycemia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Short stature Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Severe short stature

Uncommon Symptoms - Between 30% and 50% cases


Strabismus

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Delayed skeletal maturation Micrognathia High palate Microcephaly Hearing impairment Intrauterine growth retardation Obesity Low-set ears Generalized hypotonia Failure to thrive Short neck Growth delay High forehead Delayed eruption of teeth Microdontia Epicanthus Cryptorchidism Myopia Triangular face Increased body weight Hip dislocation Scoliosis Atrial septal defect Abnormality of the dentition Depressivity Gastroesophageal reflux Clinodactyly Delayed speech and language development Depressed nasal bridge Joint hypermobility Feeding difficulties Short toe Abnormality of the elbow Hypothyroidism Motor delay Growth hormone deficiency Coarctation of aorta Diarrhea Broad nasal tip Blue sclerae Sensorineural hearing impairment Prominent forehead

Rare Symptoms - Less than 30% cases


Neurodevelopmental delay Talipes Autistic behavior Hyperlordosis Coarse facial features Micropenis Hypogonadism Eczema Cognitive impairment Short nose Respiratory distress Kyphosis Deeply set eye Talipes equinovarus Frontal bossing Smooth philtrum Ptosis Anteverted nares Hypotrichosis Small hand Attention deficit hyperactivity disorder Macrocephaly Exocrine pancreatic insufficiency Short finger Thin vermilion border Thin skin Hypocalcemia Irritability Osteoporosis Cataract Nystagmus Cafe-au-lait spot Genu valgum Small for gestational age Generalized joint laxity Wide intermamillary distance Postnatal growth retardation Diabetes mellitus Weight loss Upslanted palpebral fissure Patent ductus arteriosus Ventricular septal defect Abnormality of the skeletal system Wide nasal bridge Macrotia Polyphagia Hyperglycemia Failure to thrive in infancy Insulin-resistant diabetes mellitus Abnormal heart morphology Retrognathia Natal tooth Midface retrusion Congenital diaphragmatic hernia Bilateral sensorineural hearing impairment Downturned corners of mouth Hypermetropia Short philtrum Joint laxity Mandibular prognathia Autism Hyperactivity Brachycephaly Posteriorly rotated ears Constipation Hernia Abnormality of cardiovascular system morphology Cleft palate Behavioral abnormality Hypoplastic nasal bridge Aplasia/Hypoplasia involving the nose Underdeveloped supraorbital ridges Prematurely aged appearance Truncal obesity High pitched voice Reduced number of teeth Hypercholesterolemia Hypohidrosis Osteoarthritis Depressed nasal ridge Hypoplasia of penis Delayed puberty Open mouth Thin upper lip vermilion Hypodontia Decreased body weight Dental malocclusion Pulmonic stenosis Shortening of all middle phalanges of the fingers Myoclonic spasms Band keratopathy Prolactin deficiency Birth length less than 3rd percentile Hypocalcemic seizures Shortening of all distal phalanges of the fingers Parathyroid hyperplasia Laryngeal dystonia Pseudohypoparathyroidism Hypocalcemic tetany Constrictive median neuropathy Hypoplastic facial bones Abnormality of the skin Short 5th metacarpal Tetany Elevated circulating parathyroid hormone level Calcinosis Ivory epiphyses of the toes Ectopic ossification Abnormal platelet function Pituitary resistance to thyroid hormone Anemia Enlarged epiphyses Spasticity Pain Muscular hypotonia Broad 1st metacarpal Hyperostosis frontalis interna Osteoma cutis Abnormality of the face Elevated calcitonin Broad distal phalanx of the thumb Choroid plexus calcification Low urinary cyclic AMP response to PTH administration Short fifth metatarsal Short 3rd metacarpal Subcutaneous calcification Abdominal symptom Hyperphosphatemia Short 4th metacarpal Spinal cord compression Hepatomegaly Joint hyperflexibility Paresthesia Underdeveloped nasal alae Anxiety Dyspnea Corneal opacity Hyporeflexia Hypertension Neurological speech impairment Short palm Muscle cramps Abnormality of the nasal bridge Broad fingertip Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Dermal translucency Abnormality of the pulmonary artery Thickened helices Confusion Full cheeks Malar flattening Reduced bone mineral density Oligomenorrhea Inguinal hernia Alopecia Congenital hypothyroidism Thickened calvaria Basal ganglia calcification Prolonged QT interval Short metatarsal Conjunctivitis Chest pain Hypergonadotropic hypogonadism Increased bone mineral density Glaucoma Subcutaneous nodule Hypoplasia of dental enamel Telecanthus Choreoathetosis Short metacarpal Round face Rieger anomaly Abnormality of the mandible Gait disturbance Hypoplasia of the iris Enlarged thorax Small epiphyses Thin bony cortex Bilateral coxa valga Opacification of the corneal stroma Multiple epiphyseal dysplasia Acute hepatic failure Irregular carpal bones Barrel-shaped chest Slow-growing hair Renal tubular dysfunction Increased intraocular pressure Cone-shaped epiphyses of the phalanges of the hand Ketoacidosis Irregular vertebral endplates Overweight Reduced pancreatic beta cells Premature skin wrinkling Posterior embryotoxon Carpal bone hypoplasia Hyperuricemia Radial deviation of finger Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Prominent supraorbital ridges Transient neonatal diabetes mellitus Central hypothyroidism Lipodystrophy Glucose intolerance Megalocornea Flattened epiphysis Congenital glaucoma Reduced subcutaneous adipose tissue Narrow iliac wings Lipoatrophy Abnormality of the immune system Thoracolumbar kyphosis Poor appetite Hypoplasia of the odontoid process Glycosuria Hypertonia Acidosis Jaundice Dimple chin Ivory epiphyses of the phalanges of the hand Microcornea Abnormality of dental enamel Short chin Osteopenia Excessive wrinkled skin Intracerebral periventricular calcifications Elevated hepatic transaminase Abnormal anterior chamber morphology Irregular tarsal ossification Nephrocalcinosis Renal insufficiency Congenital hip dislocation Narrow naris Insulin resistance Chronic hepatic failure Hepatosplenomegaly Joint stiffness Steatorrhea Type I diabetes mellitus Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Abnormal pupil morphology Abnormality of pancreas morphology Epiphyseal dysplasia Wormian bones Coxa valga Platyspondyly Abnormality of epiphysis morphology Abnormality of the metaphysis Hepatitis Dehydration Recurrent fractures Coma Neutropenia Nephropathy Hepatic failure Peripheral pulmonary artery stenosis Aplasia cutis congenita over the scalp vertex Abnormality of refraction Lymphoid interstitial pneumonia Apnea Camptodactyly Neonatal hypotonia Polyhydramnios Hyperhidrosis Absent speech Respiratory insufficiency Flexion contracture Delayed menarche Arthrogryposis multiplex congenita Immune dysregulation Concave nasal ridge Proportionate short stature External genital hypoplasia Keratitis Short long bone Lymphopenia Chronic diarrhea Abnormal lung morphology Wide mouth Thick eyebrow Pneumonia Adducted thumb Short humerus Limited elbow extension Rocker bottom foot Akinesia Impulsivity Trigonocephaly Hyperinsulinemia Pterygium Poor suck Sleep apnea Inability to walk Microretrognathia Exotropia Short palpebral fissure Decreased fetal movement Narrow forehead Esotropia Sleep disturbance Tapered finger Short foot Progressive visual loss Recurrent infections Hypoventilation Iris coloboma Focal impaired awareness seizure Abnormal electroretinogram Cone/cone-rod dystrophy Abnormality of the outer ear Pointed chin Cerebral visual impairment Focal-onset seizure Delayed myelination Astigmatism Abnormality of visual evoked potentials Coloboma Narrow mouth Rod-cone dystrophy Cerebral atrophy Blindness Hypoplasia of the corpus callosum Optic atrophy Abnormality of the endocrine system Abnormality of the skull Self-injurious behavior Facial hypotonia Neoplasm Central hypotonia Eversion of lateral third of lower eyelids Abnormality of the breast Prominent fingertip pads Long hallux Sparse lateral eyebrow Short 5th finger Depressed nasal tip Short columella Neonatal hypoglycemia Long palpebral fissure Hypoglycemic seizures Atrioventricular canal defect Cupped ear Long eyelashes Recurrent otitis media Otitis media Highly arched eyebrow Hirsutism Protruding ear Feeding difficulties in infancy Delayed ability to walk Hyperventilation Redundant neck skin Ventricular hypertrophy Abnormal palate morphology Abnormality of the fingernails Hoarse voice Hyperpigmentation of the skin Mitral regurgitation Sparse scalp hair Thick lower lip vermilion Low posterior hairline Cyanosis Arnold-Chiari malformation Dandy-Walker malformation Webbed neck High, narrow palate Ichthyosis Carious teeth Dolichocephaly Pectus carinatum Sparse hair Craniosynostosis Infantile muscular hypotonia Increased intracranial pressure Hypertrophic cardiomyopathy Freckling Abnormality of the testis Enlarged cisterna magna Abnormally large globe Hypomagnesemia Fragile nails Hiatus hernia Broad neck Arnold-Chiari type I malformation Atopic dermatitis Abnormality of coagulation Optic nerve hypoplasia Aplasia/Hypoplasia of the eyebrow Right bundle branch block Hypoplastic toenails Overfolded helix Patent foramen ovale Nasal speech Deep philtrum Relative macrocephaly Coarse hair Low-set, posteriorly rotated ears Umbilical hernia Fetal akinesia sequence Abnormality of the kidney Finger clinodactyly Short thumb Small nail Single transverse palmar crease Short distal phalanx of finger Pulmonary hypoplasia Abnormal cardiac septum morphology Blepharophimosis Abnormality of the pinna Hypospadias Bicuspid aortic valve Intellectual disability, severe Intermittent hyperventilation Narrow palm Temperature instability Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Misalignment of teeth Multicystic kidney dysplasia Flat occiput Pectus excavatum Mitral atresia Vomiting Cardiomyopathy Hydrocephalus Ventriculomegaly Downslanted palpebral fissures Low 1-minute APGAR score Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis 2-3 toe cutaneous syndactyly Exodeviation Abnormal aortic arch morphology Short middle phalanx of finger Decreased serum insulin-like growth factor 1 Short proximal phalanx of finger Abnormal localization of kidney Recurrent hypoglycemia Bifid tongue Mitral stenosis Single umbilical artery Cystic hygroma Hypoplastic left heart Abnormality of the zygomatic bone



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