Short stature, and Lymphedema

Diseases related with Short stature and Lymphedema

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

Top matches:

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

SCHNECKENBECKEN DYSPLASIA Is also known as chondrodysplasia with snail-like pelvis|slc35d1-cdg|chondrodysplasia, lethal neonatal, with snail-like pelvis

Related symptoms:

  • Cleft palate
  • Cryptorchidism
  • Brachydactyly
  • Macrocephaly
  • Short neck


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SCHNECKENBECKEN DYSPLASIA

Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Other less relevant matches:

Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle, cardiac muscle, gastrointestinal tract, lymph nodes, spleen, thyroid, and adrenal glands.

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Muscular hypotonia
  • Feeding difficulties
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about INFANTILE SYSTEMIC HYALINOSIS

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME Is also known as mlcrd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME

Low match NEVUS OF ITO

Nevus of Ito is a benign dermal melanocytosis occurring most frequently in the Asian populations and characterized by unilateral, asymptomatic, blue, gray or brown skin pigmentation within the acromioclavicular and upper chest area (involving the side of the neck, the supraclavicular and scapular areas, and the shoulder region). It is usually diagnosed in early infancy and in early adolescence. Nevus of Ito may progressively enlarge and darken in color (particularly with puberty) and its appearance usually remains stable once adulthood is reached. Spontaneous regression does not occur. Malignant melanoma has rarely been reported within a nevus of Ito. It shares the clinical features of nevus of Ota, except its anatomic location and in rare occasions, mayoccur together with the latter.

NEVUS OF ITO Is also known as incontinentia pigmenti, familial male-lethal type|nevus fuscocaeruleus acromiodeltoideus|ip2, formerly|bloch-sulzberger syndrome|incontinentia pigmenti, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEVUS OF ITO

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, {133780}).Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016).Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see {251270}).See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; {268050}), which has been mapped to chromosome 8q21.3-q22.1.

MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR Is also known as lymphedema, microcephaly, chorioretinopathy syndrome|cdmmr syndrome|mlcrd syndrome|lymphedema and retinal folds with microcephaly and microphthalmos|microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant|microcephaly, ly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION; MCLMR

Top 5 symptoms//phenotypes associated to Short stature and Lymphedema

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Edema Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Short stature and Lymphedema. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Cataract Spasticity Optic atrophy Hypertonia Microphthalmia Retinal detachment Strabismus Epicanthus Subcutaneous nodule Visual loss Chylothorax Muscular hypotonia Generalized hypotonia Atrial septal defect Scoliosis Rigidity Cellulitis Fever Visual impairment Wide nasal bridge Pointed chin Abnormality of retinal pigmentation Anteverted nares Micrognathia Hearing impairment Ptosis Glaucoma Protruding ear Chorioretinal dysplasia Retinal dystrophy Thickened skin Sloping forehead Abnormal eyelash morphology Retinopathy Skin ulcer Micromelia Brachydactyly Macrocephaly Malar flattening Midface retrusion Polyhydramnios Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Leukemia Nevus Kyphoscoliosis Deep philtrum Papule Myalgia Renal insufficiency Abnormality of the dentition Flexion contracture Low-set ears Hyperpigmentation of the skin Hypertelorism Abnormal facial shape Depressed nasal bridge Downslanted palpebral fissures Recurrent fractures Malabsorption Joint stiffness Immunodeficiency Failure to thrive Flat occiput Hyperostosis Dry skin Pleural effusion Wide nose Thick vermilion border Full cheeks Lymphoma Specific learning disability Status epilepticus Amblyopia Muscle stiffness Venous thrombosis Upslanted palpebral fissure Scaling skin Anophthalmia Melanonychia Underdeveloped supraorbital ridges Long philtrum Gangrene Abnormal toenail morphology Blindness Myopia Cryptorchidism Leukonychia Abnormal nasolacrimal system morphology Erysipelas Generalized osteosclerosis Panniculitis Nonimmune hydrops fetalis Retinal dysplasia Intellectual disability, severe Vertebral hypoplasia Abnormal form of the vertebral bodies Short ribs Abnormality of the fingernails Disproportionate short-limb short stature Pigmentary retinopathy Vitreoretinopathy Abnormality of the metaphysis Retinal fold Splenomegaly Pectus excavatum Abnormality of skin pigmentation Diaphyseal thickening Cortical gyral simplification Platyspondyly Nystagmus Webbed neck Short neck Narrow chest Severe hydrops fetalis Hydrops fetalis Hypoplastic vertebral bodies Sinus tachycardia Mixed respiratory and metabolic acidosis Long upper lip Hepatomegaly Congenital ptosis Polydactyly Exudative vitreoretinopathy Diaphragmatic eventration Retinal thinning Microcornea Postaxial polydactyly Broad nasal tip Thick lower lip vermilion Prominent nasal tip High forehead Overgrowth Congenital microcephaly Chorioretinal atrophy Respiratory arrest Agitation Bilateral sensorineural hearing impairment Patent foramen ovale Bilateral ptosis Optic nerve hypoplasia Pulmonary hypoplasia Hepatosplenomegaly Malignant hyperthermia Severe lactic acidosis Arthrogryposis multiplex congenita Abnormal bleeding Muscle cramps Metabolic acidosis Joint hypermobility Tachycardia Lactic acidosis Limb muscle weakness Muscular dystrophy Decreased fetal movement Pectus carinatum Stroke Hyperlordosis Myopic astigmatism Proximal muscle weakness Acidosis Hyperhidrosis Hypotension Lumbar hyperlordosis Breech presentation Rhabdomyolysis Hyperphosphatemia Low hanging columella Thoracic kyphosis Astigmatism Myoglobinuria Scaphocephaly Acute kidney injury Abnormality of the sternum Shock Hyperkalemia Myopathic facies Abnormality of the coagulation cascade Ventricular fibrillation Myotonia Ventricular arrhythmia Tachypnea Sleep disturbance Supernumerary vertebral ossification centers Hypermetropia Absent toenail Sensorineural hearing impairment Severe short-limb dwarfism Abnormally ossified vertebrae Hypoplasia of the corpus callosum Multiple prenatal fractures Abnormal bone ossification Elevated serum creatine phosphokinase Sclerosis of skull base Aplasia/hypoplasia of the extremities Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Metaphyseal cupping Extramedullary hematopoiesis Ulnar deviation of the hand Lethal skeletal dysplasia Abnormal leukocyte morphology Ectopic ossification Large forehead Abnormal pelvis bone ossification Abnormality of the vertebral spinous processes Laryngeal calcification Tracheal calcification Abnormality of the calcaneus Punctate vertebral calcifications Abnormal foot bone ossification Hepatic calcification Absent or minimally ossified vertebral bodies Patchy variation in bone mineral density Short diaphyses Horizontal sacrum Abnormality of the scapula Abnormality of cholesterol metabolism Anterior rib punctate calcifications Sternal punctate calcifications Abnormality of the orbital region 11 pairs of ribs Hypoplastic fingernail Hypoplasia of the maxilla Postaxial hand polydactyly Sandal gap Bone marrow hypocellularity Rhizomelia Short phalanx of finger Bowing of the long bones Omphalocele Cardiomegaly Limb undergrowth Thoracic hypoplasia Intestinal malrotation Thin upper lip vermilion Neonatal hypotonia Aggressive behavior Abnormal ossification involving the femoral head and neck Attention deficit hyperactivity disorder Corneal opacity Flared metaphysis Mesomelia Decreased skull ossification Postaxial foot polydactyly Intellectual disability, mild Misalignment of teeth Calvarial skull defect Prominent forehead Preeclampsia Hyperactivity Barrel-shaped chest Reduced visual acuity Narrow nasal bridge Abnormal lung lobation Mandibular prognathia Epiphyseal stippling Abnormal joint morphology Broad palm Cystic hygroma Macrotia Pes cavus Cleft palate Arrhythmia Prune belly Osteopenia Osteoporosis Feeding difficulties Growth delay Genital edema Pulmonary lymphangiectasia Facial edema Camptodactyly of finger Intestinal lymphangiectasia Stomatocytosis Periorbital edema Spherocytosis Generalized edema Varicose veins Coarse facial features Short palm Deep venous thrombosis Abnormality of the musculature Hypertension Pain Aplasia/Hypoplasia of the thymus Abnormality of the adrenal glands Abnormality of the gastrointestinal tract Osteomalacia Telangiectasia of the skin Chronic diarrhea Steatorrhea Abnormality of dental morphology Urticaria Increased susceptibility to fractures Polycystic ovaries Recurrent bacterial infections Gingival overgrowth Hydrocele testis Pericardial effusion Arthralgia Ovoid vertebral bodies Unossified vertebral bodies Dumbbell-shaped long bone Advanced ossification of carpal bones Anterior rib cupping Lateral clavicle hook Hypoplastic ilia Flat acetabular roof Increased fibular diameter Hypoplastic scapulae Fibular hypoplasia Hypoplastic toenails Metaphyseal irregularity Accelerated skeletal maturation Spontaneous abortion Dolichocephaly Advanced tarsal ossification Snail-like ilia Cupped ear Abnormality of neuronal migration Ascites Hemolytic anemia Gastroesophageal reflux Hypothyroidism Anemia Biparietal narrowing Aplasia/Hypoplasia of the cerebellum Hyperreflexia Cone/cone-rod dystrophy Pachygyria Optic disc pallor Cerebral cortical atrophy Cerebellar hypoplasia Cerebral atrophy Intrauterine growth retardation Skeletal muscle atrophy Arthritis Dilatation Coarse hair Abnormality of the vasculature Pustule Uveitis Hypoplastic nipples Supernumerary nipple Keratitis Eosinophilia Anodontia Hemivertebrae Increased bone mineral density Fine hair Abnormal blistering of the skin Nail dysplasia Ectodermal dysplasia Hypoplasia of the fovea Conical tooth Hypodontia Hyperpigmented streaks Kyphosis Myopathy High palate Muscle weakness Atrophic, patchy alopecia Retinal vascular proliferation Nail pits Ridged nail Retinal hemorrhage Hypohidrotic ectodermal dysplasia Scarring alopecia of scalp Supernumerary ribs Breast aplasia Breast hypoplasia Thick nail Tetraplegia Hypopigmentation of the skin Craniosynostosis Atypical scarring of skin Osteopoikilosis Abnormal bone structure Generalized limb muscle atrophy Abnormal aortic morphology Abnormal cortical bone morphology Generalized hypopigmentation Cutaneous finger syndactyly Diffuse skin atrophy Scleroderma Multiple lipomas Hemangioma Hoarse voice Bone pain Abnormality of epiphysis morphology Palmoplantar keratoderma Connective tissue nevi Complete duplication of the distal phalanges of the hand Delayed eruption of teeth Hyperkeratosis Nail dystrophy Skin rash Scarring Sparse hair Erythema Pallor Alopecia Abnormal axial skeleton morphology Recurrent infections Neoplasm Abnormality of the optic nerve Abnormal eyelid morphology Abnormality of vision Abnormality of the hair Abnormality of the eye Chorioretinal lacunae


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