Failure to thrive, and Interphalangeal joint contracture of finger

Diseases related with Failure to thrive and Interphalangeal joint contracture of finger

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


Top matches:

Medium match BOWEN-CONRADI SYNDROME


Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.

BOWEN-CONRADI SYNDROME Is also known as bowen syndrome, hutterite type|bowen hutterite syndrome, formerly

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BOWEN-CONRADI SYNDROME

Medium match SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1


Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Medium match FREEMAN-SHELDON SYNDROME


Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.

FREEMAN-SHELDON SYNDROME Is also known as craniocarpotarsal dystrophy|craniocarpotarsal dysplasia|distal arthrogryposis type 2a|whistling face syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about FREEMAN-SHELDON SYNDROME

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Other less relevant matches:

Medium match 2Q24 MICRODELETION SYNDROME


2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.

2Q24 MICRODELETION SYNDROME Is also known as monosomy 2q24|del(2)(q24)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET MESH MENDELIAN

More info about 2Q24 MICRODELETION SYNDROME

Medium match BETHLEM MYOPATHY 1; BTHLM1


BETHLEM MYOPATHY 1; BTHLM1 Is also known as muscular dystrophy, benign congenital|bethlem myopathy|myopathy, benign congenital, with contractures

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about BETHLEM MYOPATHY 1; BTHLM1

Medium match EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME


EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

Medium match BLAU SYNDROME; BLAUS


Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998).

BLAU SYNDROME; BLAUS Is also known as arthrocutaneouveal granulomatosis|granulomatous inflammatory arthritis, dermatitis, and uveitis, familial|eos|jabs syndrome|granulomatosis, familial juvenile systemic|acug|sarcoidosis, early-onset|granulomatosis, familial, blau type

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about BLAU SYNDROME; BLAUS

Medium match INFANTILE SYSTEMIC HYALINOSIS


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

Medium match EHLERS-DANLOS SYNDROME, SPONDYLOCHEIRODYSPLASTIC TYPE


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

Medium match BETHLEM MYOPATHY


Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Top 5 symptoms//phenotypes associated to Failure to thrive and Interphalangeal joint contracture of finger

Symptoms // Phenotype % cases
Camptodactyly of finger Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Failure to thrive and Interphalangeal joint contracture of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Short stature Respiratory failure Feeding difficulties Talipes equinovarus Neonatal hypotonia Motor delay Joint stiffness Muscular hypotonia Seizures Myopathy Paralysis Downslanted palpebral fissures Decreased fetal movement Respiratory distress Diaphragmatic paralysis Muscular dystrophy Feeding difficulties in infancy Small for gestational age High palate

Rare Symptoms - Less than 30% cases


Nasal speech Global developmental delay Absent palmar crease Follicular hyperkeratosis Joint laxity Osteopenia Facial palsy Hypertelorism Generalized muscle weakness Hearing impairment Nocturnal hypoventilation Subcutaneous nodule Cleft palate Ankle contracture Cataract Scarring Short neck Congenital muscular dystrophy Limb-girdle muscular dystrophy Long fingers Respiratory insufficiency due to muscle weakness Torticollis Congenital hip dislocation Papule Recurrent lower respiratory tract infections Kyphoscoliosis Rigidity Proximal muscle weakness Protruding ear Hyperkeratosis Skin ulcer Intrauterine growth retardation Abnormality of the foot Hyperhidrosis Cryptorchidism Hyporeflexia Respiratory insufficiency Skeletal muscle atrophy Camptodactyly Peripheral neuropathy Distal muscle weakness Severe global developmental delay Progressive muscle weakness Abnormal joint morphology Severe muscular hypotonia Micromelia Slender build Immunodeficiency Severe short stature Impaired mastication Osteoporosis Multiple joint contractures Muscle fiber necrosis Generalized amyotrophy Mildly elevated creatine phosphokinase Malabsorption Type 1 muscle fiber predominance Difficulty climbing stairs Coarse facial features Spinal rigidity Proximal amyotrophy Progressive proximal muscle weakness Cigarette-paper scars Brachydactyly Macrocephaly Abducens palsy Increased laxity of fingers Rheumatoid arthritis Increased antibody level in blood Abnormality of the ear Optic neuropathy Uveitis Joint swelling Abnormal cranial nerve morphology Macular edema Juvenile rheumatoid arthritis Synovitis Cystoid macular edema Flexion contracture of toe Short palm Granulomatosis Band keratopathy Anterior uveitis Posterior uveitis Iridocyclitis Iritis Hyperextensibility at wrists Large vessel vasculitis Panuveitis Tendonitis Intermittent generalized erythematous papular rash Nongranulomatous uveitis Increased variability in muscle fiber diameter Gingival overgrowth Abnormality of mitochondrial metabolism Abnormality of the metaphysis Hypodontia Bifid uvula Dental malocclusion Short metacarpal Pachygyria Waddling gait Blue sclerae Thin skin Growth hormone deficiency Round face Hip dislocation Short phalanx of finger Tapered finger Joint contracture of the hand Kyphosis Hyperextensible skin Metaphyseal widening Short femoral neck Irregular vertebral endplates Prominent superficial veins Broad femoral neck Flat capital femoral epiphysis Flattened epiphysis Thenar muscle atrophy Delayed eruption of teeth Bruising susceptibility Recurrent fractures Steatorrhea Thickened skin Chronic diarrhea Moderately short stature Lymphedema Hyperpigmentation of the skin Recurrent bacterial infections Polycystic ovaries Cachexia Increased susceptibility to fractures Urticaria Abnormality of dental morphology Telangiectasia of the skin Hypercalcemia Abnormality of the musculature Osteomalacia Abnormality of the gastrointestinal tract Lissencephaly Abnormality of the adrenal glands Aplasia/Hypoplasia of the thymus Proptosis Skeletal dysplasia Pes planus EMG abnormality Postnatal growth retardation Platyspondyly Congenital muscular torticollis Vasculitis Strabismus Weak cry Hypoventilation EMG: neuropathic changes Degeneration of anterior horn cells Diaphragmatic eventration Inspiratory stridor Diaphragmatic weakness Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Ptosis Spinal muscular atrophy Wide nasal bridge Abnormality of the dentition Long philtrum Hernia Narrow mouth Polyhydramnios Deeply set eye Neurological speech impairment Underdeveloped nasal alae Oligohydramnios Depressed nasal ridge Axonal degeneration Decreased nerve conduction velocity Malignant hyperthermia Short chin Microcephaly Micrognathia Ventriculomegaly Abnormality of cardiovascular system morphology Clinodactyly Clinodactyly of the 5th finger Oral cleft Prominent nose Sloping forehead Finger clinodactyly Rocker bottom foot Tachypnea Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Pain Constipation Limb muscle weakness Lower limb muscle weakness Peripheral axonal neuropathy Distal amyotrophy Urinary incontinence Premature birth Ulnar deviation of finger Dimple chin Inflammatory abnormality of the skin Increased connective tissue Pectus excavatum Encephalopathy Areflexia Gastroesophageal reflux Respiratory tract infection Recurrent pneumonia Poor head control Restrictive ventilatory defect Bulbar palsy Difficulty running Respiratory arrest Plantar flexion contractures Increased endomysial connective tissue Visual impairment Hypertension Fever Edema Blindness Glaucoma Arthritis Autoimmunity Skin rash Eczema Dysphagia Necrotizing myopathy Prenatal movement abnormality Small face Intellectual disability Behavioral abnormality Microphthalmia Low-set, posteriorly rotated ears Autistic behavior Coloboma Short philtrum Toe syndactyly Arachnodactyly Central apnea Hand clenching Limb-girdle muscle atrophy Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Abnormality of the skeletal system Cardiomyopathy Elevated serum creatine phosphokinase Abnormality of the cardiovascular system Elbow flexion contracture Congenital contracture Limb-girdle muscle weakness Abnormality of the mitochondrion Increased laxity of ankles



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