Failure to thrive, and Skeletal dysplasia

Diseases related with Failure to thrive and Skeletal dysplasia

In the following list you will find some of the most common rare diseases related to Failure to thrive and Skeletal dysplasia that can help you solving undiagnosed cases.

Top matches:

Medium match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

Other less relevant matches:

Medium match OMENN SYNDROME

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).

OMENN SYNDROME Is also known as combined immunodeficiency with hypereosinophilia|reticuloendotheliosis, familial, with eosinophilia|severe combined immunodeficiency with hypereosinophilia

Related symptoms:

  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Fever
  • Edema


SOURCES: ORPHANET OMIM MENDELIAN

More info about OMENN SYNDROME

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.

EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE Is also known as eds, spondylocheirodysplastic type|spondylocheirodysplasia, ehlers-danlos syndrome-like|scd-eds

Related symptoms:

  • Short stature
  • Growth delay
  • Failure to thrive
  • Flexion contracture
  • High palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE

Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).

COLE-CARPENTER SYNDROME Is also known as bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome|bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COLE-CARPENTER SYNDROME

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.

SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME Is also known as smd-crd

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.

CRANIOLENTICULOSUTURAL DYSPLASIA Is also known as boyadjiev-jabs syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CRANIOLENTICULOSUTURAL DYSPLASIA

PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME Is also known as spondyloepimetaphyseal dysplasia, progressive, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA-SHORT STATURE-SHORT FOURTH METATARSALS-INTELLECTUAL DISABILITY SYNDROME

Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

More info about PELGER-HUET ANOMALY; PHA

Top 5 symptoms//phenotypes associated to Failure to thrive and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Severe short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism High palate Osteopenia Generalized hypotonia Macrocephaly Low-set ears Global developmental delay Platyspondyly Delayed eruption of teeth Intellectual disability Delayed speech and language development Kyphosis Short metacarpal Abnormality of the metaphysis Hyperlordosis Increased body weight Frontal bossing Thrombocytopenia Abnormal facial shape Strabismus Metaphyseal widening

Rare Symptoms - Less than 30% cases

Anemia Depressed nasal bridge Blue sclerae Malar flattening Prominent forehead Beaking of vertebral bodies Mild short stature Metaphyseal irregularity Dental malocclusion Bifid uvula Rhizomelia Downslanted palpebral fissures Proptosis Myopia Pes planus Femoral bowing Neutropenia Bruising susceptibility Joint laxity Postnatal growth retardation Microcephaly Diarrhea Hyperextensible skin Waddling gait Short femoral neck Microdontia Craniosynostosis Hemangioma Midface retrusion Abnormality of the ribs Bowing of the long bones Prominent superficial veins Brachydactyly Joint stiffness Short palm Flexion contracture Short neck Abnormality of the skeletal system Carious teeth Recurrent otitis media Coxa vara Joint hyperflexibility Ectopia pupillae Optic nerve coloboma Ovoid vertebral bodies Enlarged joints Spondylometaphyseal dysplasia Vertebral compression fractures Retinal atrophy Limited elbow movement Metaphyseal cupping Cone dysfunction syndrome Iris hypopigmentation Abnormality of macular pigmentation Decreased hip abduction Narrow greater sacrosciatic notches Retinal thinning Severe platyspondyly Cupped ribs Communicating hydrocephalus Large central visual field defect Tibial torsion Hypoplastic inferior ilia Peripheral visual field loss Crumpled long bones Thoracic scoliosis Visual loss Bowing of the legs Flared metaphysis Limb undergrowth Progressive visual loss Retinal dystrophy Abnormality of color vision Astigmatism Nyctalopia Coloboma Photophobia Microphthalmia Macular atrophy Tibial bowing Visual impairment Nystagmus Orbital craniosynostosis Cone/cone-rod dystrophy Multiple suture craniosynostosis Severe hydrops fetalis Short finger High hypermetropia Disproportionate short stature Cleft palate Wide nose Cataract Small epiphyses Ventricular septal defect Distal femoral bowing Thoracic platyspondyly Skull asymmetry Proximal femoral epiphysiolysis Short fourth metatarsal Narrow pelvis bone Spondyloepimetaphyseal dysplasia Pes cavus Delayed epiphyseal ossification Thoracolumbar scoliosis Slender long bone Overlapping toe Rocker bottom foot Tented upper lip vermilion Thick vermilion border Microtia Abnormality of the dentition Polydactyly Autism Abnormality of chromosome segregation Hyposegmentation of neutrophil nuclei Folate deficiency Median cleft palate Giant platelets Lower limb hypertonia Ectopic calcification Short 5th metacarpal Short 4th metacarpal Umbilical hernia Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Foot dorsiflexor weakness Gingival overgrowth Eczema Generalized tonic-clonic seizures Leukemia Autistic behavior Delayed skeletal maturation Cryptorchidism Narrow chest Prominent nose Hypoplasia of the maxilla Shallow orbits Thin vermilion border Abnormality of skin pigmentation Smooth philtrum Pulmonic stenosis Prominent nasal bridge Large fontanelles Sparse hair Wide mouth Thin upper lip vermilion Gastroesophageal reflux Long philtrum Anteverted nares Optic atrophy Wide nasal bridge Esotropia Hyperpigmentation of the skin Short nose High iliac wings Epicanthus Motor delay Ptosis Forehead hyperpigmentation Punctate cataract Posterior wedging of vertebral bodies Posterior Y-sutural cataract Sutural cataract Narrow iliac wings Wide anterior fontanel Hypoplasia of teeth Delayed closure of the anterior fontanelle Decreased skull ossification Capillary hemangioma Premature loss of teeth Brittle hair Prominent supraorbital ridges Coarse hair Coronal craniosynostosis Moderately short stature Turricephaly Abnormal anterior horn cell morphology Constipation Feeding difficulties Hypothalamic luteinizing hormone-releasing hormone deficiency Lumbar kyphosis Pituitary dwarfism Thoracolumbar kyphoscoliosis Prolactin deficiency High myopia Anterior pituitary hypoplasia Gonadotropin deficiency Adrenocorticotropic hormone deficiency Panhypopituitarism Pituitary hypothyroidism Thoracic kyphosis Respiratory tract infection Severe muscular hypotonia Small nail Prolonged partial thromboplastin time Hepatomegaly Hyperechogenic pancreas Laryngeal cleft Subglottic stenosis Normocytic anemia Prolonged prothrombin time Mild global developmental delay Genu varum Severe failure to thrive Exocrine pancreatic insufficiency Metaphyseal dysplasia Steatorrhea Neurodevelopmental delay Laryngomalacia Hypopituitarism Cyanosis Splenomegaly Lymphedema Hyperostosis Dermal atrophy Growth abnormality Cranial nerve paralysis Increased bone mineral density Bone pain Nevus Joint swelling Abnormality of the foot Arthritis Arthralgia Dilatation Skeletal muscle atrophy Hypertension Scleroderma Abnormality of the vasculature Growth hormone deficiency Ectopic ossification in muscle tissue Joint hypermobility Jaundice Micropenis Myopathy Sensorineural hearing impairment Hearing impairment Osteopoikilosis Atypical scarring of skin Subcutaneous calcification Peripheral arteriovenous fistula Upper limb asymmetry Chronic pain Lack of skin elasticity Lower limb asymmetry Fever Immunodeficiency Central hypotonia Thin skin Flattened epiphysis Flat capital femoral epiphysis Broad femoral neck Irregular vertebral endplates Joint contracture of the hand Short phalanx of finger Hypodontia Pain Tapered finger Camptodactyly of finger Severe B lymphocytopenia Desquamation of skin soon after birth Abnormal lymphocyte morphology Generalized lymphadenopathy Thenar muscle atrophy Cigarette-paper scars Recurrent fungal infections Wormian bones Hyperthyroidism Pathologic fracture High pitched voice Abnormality of the voice Increased susceptibility to fractures Abnormality of dental enamel Hydrops fetalis Absent palmar crease Abnormal form of the vertebral bodies Recurrent fractures Hydrocephalus Intrauterine growth retardation Muscular hypotonia Micrognathia Protracted diarrhea B lymphocytopenia Pneumonia Hypotrichosis Inflammatory abnormality of the skin Nephrotic syndrome Lymphoma Sepsis Lymphadenopathy Dry skin Pruritus Chronic diarrhea Papule Skin rash Autoimmunity Hepatosplenomegaly Hypothyroidism Alopecia Thickened skin Short toe Metaphyseal chondrodysplasia Thyroiditis Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Hypoproteinemia Severe combined immunodeficiency Hashimoto thyroiditis Aplasia/Hypoplasia of the eyebrow Recurrent bacterial infections Combined immunodeficiency Leukocytosis Erythroderma Scaling skin Eosinophilia Disproportionate short-limb short stature Shock Short 3rd metacarpal


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