Failure to thrive, and Short metacarpal

Diseases related with Failure to thrive and Short metacarpal

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

Top matches:

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

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

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

Other less relevant matches:

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

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).

CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME Is also known as crouzon-dermoskeletal syndrome|crouzonodermoskeletal syndrome

Related symptoms:

  • Short stature
  • Hypertelorism
  • Failure to thrive
  • Strabismus
  • Cleft palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.

OSTEOGLOSPHONIC DYSPLASIA Is also known as osteoglophonic dwarfism

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OSTEOGLOSPHONIC DYSPLASIA

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME Is also known as sparse hair and mental retardation|nbs|nicolaides-baraitser syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Top 5 symptoms//phenotypes associated to Failure to thrive and Short metacarpal

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Severe short stature Uncommon - Between 30% and 50% cases
Brachydactyly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Skeletal dysplasia Seizures Low-set ears Depressed nasal bridge Malar flattening Global developmental delay Frontal bossing Short palm Abnormal facial shape Strabismus Growth delay Downslanted palpebral fissures Platyspondyly Hyperlordosis Short nose Feeding difficulties Limb undergrowth Midface retrusion Brachycephaly Rhizomelia Craniosynostosis Autistic behavior Proptosis Autism Cryptorchidism Delayed skeletal maturation Short neck Dental malocclusion Generalized hypotonia Microcephaly Flexion contracture Short phalanx of finger Short metatarsal Delayed speech and language development Metaphyseal widening Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Spondyloepimetaphyseal dysplasia Thoracic platyspondyly Deeply set eye Ptosis Macrocephaly Poor speech Widely spaced teeth Aspiration Kyphosis Generalized tonic-clonic seizures Joint dislocation Eczema Micrognathia Alopecia Abnormality of the skeletal system Pain Disproportionate short-limb short stature Mandibular prognathia Respiratory failure Hypospadias Long philtrum Respiratory distress Anteverted nares Cloverleaf skull Cleft palate Enlarged joints Respiratory tract infection Hypotrichosis Abnormal form of the vertebral bodies Absence seizures Choanal atresia Conductive hearing impairment Drooling Pneumonia Respiratory insufficiency Abnormality of the metacarpal bones Depressivity Waddling gait Broad femoral neck Tibial bowing Femoral bowing Beaking of vertebral bodies Visual impairment Coxa vara Recurrent otitis media Bowing of the long bones High palate Osteopenia Short femoral neck Joint laxity Synophrys Small for gestational age Blepharophimosis Sparse hair Obesity Wide mouth Aggressive behavior Smooth philtrum Coarse facial features Osteoporosis Camptodactyly of finger Wide nose Thin vermilion border Thick lower lip vermilion Narrow palpebral fissure Pes planus Low anterior hairline Abnormality of epiphysis morphology Long eyelashes Broad-based gait Sparse scalp hair Short palpebral fissure Status epilepticus Thick eyebrow Specific learning disability Wide intermamillary distance Full cheeks Broad nasal tip Triangular face Highly arched eyebrow Everted lower lip vermilion High, narrow palate Hernia Intrauterine growth retardation Absent speech Bruising susceptibility Alopecia of scalp Basal ganglia calcification Hamartoma Spinal rigidity Hallux valgus Back pain Sarcoma Finger clinodactyly Exostoses Tapered finger Abnormal vertebral morphology Short thumb Subcutaneous nodule Myocardial infarction Limitation of joint mobility Delayed eruption of teeth Hypodontia Ankylosis Broad neck Abnormality of cardiovascular system morphology Ectopic ossification Intellectual disability, severe Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Fibrosarcoma Myositis Osteochondroma Synostosis of joints Soft tissue sarcoma Low-grade fever Overbite Stiff neck Short 1st metacarpal Short hallux Accelerated skeletal maturation Ectopia pupillae Sandal gap Meningitis Clubbing Oral-pharyngeal dysphagia Elbow dislocation Hyperkinesis Abnormality of the outer ear Recurrent pneumonia Muscle stiffness Sinusitis Spondyloepiphyseal dysplasia Recurrent urinary tract infections Encephalocele Lumbar hyperlordosis Otitis media Premature birth Generalized myoclonic seizures Abdominal distention Inability to walk Flat occiput Progressive spasticity Talipes Intestinal pseudo-obstruction Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Coronal cleft vertebrae Atonic seizures Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Loss of speech Short humerus Nausea Narrow chest Mutism Echolalia Broad distal phalanx of finger Eclabion Wide nasal base Broad columella Broad philtrum Abnormality of the testis Abnormal hair pattern Abnormality of finger Thick nasal alae Epileptic spasms Protruding tongue Narrow nasal bridge Dysphasia Aphasia Absent eyebrow Difficulty walking Overfolded helix Excessive wrinkled skin Clubbing of toes Anxiety Recurrent infections Gastroesophageal reflux Macrotia Polyhydramnios Weight loss Abdominal pain Recurrent respiratory infections Constipation Vomiting Curly eyelashes Talipes equinovarus Gait disturbance Hyperreflexia Spasticity Prominent proximal interphalangeal joints Unilateral narrow palpebral fissure Prominent interphalangeal joints Prominent eyelashes Cone-shaped epiphysis Clinodactyly Bifid uvula Thrombocytopenia Neutropenia Retinal dystrophy Leukemia Umbilical hernia Polydactyly Prominent forehead Pes cavus Progressive visual loss Gingival overgrowth Abnormality of the dentition Edema Ventricular septal defect Abnormality of the ribs Distal femoral bowing Skull asymmetry Proximal femoral epiphysiolysis Astigmatism Foot dorsiflexor weakness Narrow pelvis bone Median cleft palate Joint stiffness Optic atrophy Coloboma Nyctalopia Short 3rd metacarpal Hyposegmentation of neutrophil nuclei Folate deficiency Giant platelets Mild short stature Lower limb hypertonia Ectopic calcification Short 5th metacarpal Abnormality of chromosome segregation Short 4th metacarpal Upper limb undergrowth Acute lymphoblastic leukemia Lower limb hyperreflexia Short fourth metatarsal Small epiphyses Renal insufficiency Retinal thinning Peripheral visual field loss Retinal atrophy Hypoplastic inferior ilia Tibial torsion Large central visual field defect Cupped ribs Severe platyspondyly Narrow greater sacrosciatic notches Thoracic scoliosis Decreased hip abduction Abnormality of macular pigmentation Limited elbow movement Cone dysfunction syndrome Metaphyseal cupping Spondylometaphyseal dysplasia Ovoid vertebral bodies Iris hypopigmentation Macular atrophy Cone/cone-rod dystrophy Thick vermilion border Delayed epiphyseal ossification Thoracolumbar scoliosis Slender long bone Overlapping toe Rocker bottom foot Tented upper lip vermilion Increased body weight Microtia Disproportionate short stature Metaphyseal irregularity Bowing of the legs Flared metaphysis Abnormality of color vision Short finger Epicanthus High hypermetropia Motor delay Hydrocephalus Photophobia Glaucoma Broad foot Abnormal bone ossification Abnormality of the nasopharynx Renal phosphate wasting Chordee Nasal obstruction Hypoplastic scapulae Abnormality of the clavicle Shallow orbits Broad metatarsal Broad palm Hypophosphatemia Hypoplastic toenails Failure to thrive in infancy Increased susceptibility to fractures Hyperextensible skin Reduced number of teeth Broad phalanx Broad metacarpals Short foot Anemia Blue sclerae Clinodactyly of the 5th finger Optic nerve coloboma Intellectual disability, mild Congestive heart failure Thin skin Fever Abnormality of the metaphysis Pseudoarthrosis Sensorineural hearing impairment Neoplasm Hearing impairment Bipolar affective disorder Schizophrenia Joint contracture of the hand Multiple unerupted teeth Unerupted tooth Plagiocephaly Protruding ear Posteriorly rotated ears Epidermal acanthosis Laryngomalacia Increased intracranial pressure Nystagmus Arnold-Chiari malformation Abnormal palate morphology Acanthosis nigricans Myopia Convex nasal ridge Melanocytic nevus Migraine Nevus Hypoplasia of the maxilla Hypopigmentation of the skin Dry skin Microphthalmia High forehead Visual loss Glomerulonephritis Aplasia/Hypoplasia of the cerebellum Irregular vertebral endplates Short uvula Inguinal hernia Prominent superficial veins Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Moderately short stature Cigarette-paper scars Membranous nephropathy Proportionate short stature Bicoronal synostosis Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Absent palmar crease Choanal stenosis Turricephaly Distal tapering femur


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