Flexion contracture, and Growth hormone deficiency

Diseases related with Flexion contracture and Growth hormone deficiency

In the following list you will find some of the most common rare diseases related to Flexion contracture and Growth hormone deficiency that can help you solving undiagnosed cases.

Top matches:

CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME Is also known as cagsss

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CATARACT-GROWTH HORMONE DEFICIENCY-SENSORY NEUROPATHY-SENSORINEURAL HEARING LOSS-SKELETAL DYSPLASIA SYNDROME

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

Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

HYPOTONIA-CYSTINURIA SYNDROME Is also known as cystinuria with mitochondrial disease|hcs|homozygous 2p16 deletion syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTONIA-CYSTINURIA SYNDROME

Other less relevant matches:

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.

ULNAR-MAMMARY SYNDROME Is also known as schinzel syndrome|ums|pallister ulnar-mammary syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ULNAR-MAMMARY SYNDROME

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

Low match EEC SYNDROME

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).

EEC SYNDROME Is also known as eec syndrome 3|ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about EEC SYNDROME

Benign chronic familial pemphigus of Hailey-Hailey is characterized by rhagades mostly located in the armpits, inguinal and perineal folds (scrotum, vulva).

FAMILIAL BENIGN CHRONIC PEMPHIGUS Is also known as poikiloderma atrophicans and cataract|hailey-hailey disease|benign chronic familial pemphigus of hailey-hailey

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL BENIGN CHRONIC PEMPHIGUS

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.

15Q24 MICRODELETION SYNDROME Is also known as monosomy 15q24|del(15)(q24)

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about 15Q24 MICRODELETION SYNDROME

The term frontonasal dysplasia was coined by Sedano et al. (1970) to describe a constellation of findings limited to the face and head. The disorder is defined as 2 or more of the following: (1) true ocular hypertelorism; (2) broadening of the nasal root; (3) median facial cleft affecting the nose and/or upper lip and palate; (4) unilateral or bilateral clefting of the alae nasi; (5) lack of formation of the nasal tip; (6) anterior cranium bifidum occultum (see {168500}); and (7) a V-shaped or widow's peak frontal hairline (Sedano and Gorlin, 1988). Most reported cases are sporadic, but a few familial cases have been reported.Twigg et al. (2009) characterized frontonasal malformation (FNM) as a 'very heterogeneous group of disorders' and summarized clinical features.Also see acromelic frontonasal dysplasia (AFND ), frontofacionasal dysplasia (FFND ), oculoauriculofrontonasal syndrome (OAFNS ), the acrofrontofacionasal dysostosis syndromes ({201180}, {239710}), and craniofrontonasal syndrome (OMIM ). Genetic Heterogeneity of Frontonasal DysplasiaFrontonasal dysplasia-2 (FND2 ) is caused by mutation in the ALX4 gene (OMIM ) on chromosome 11p11. Frontonasal dysplasia-3 (FND3 ) is caused by mutation in the ALX1 gene (OMIM ) on chromosome 12q21.

FRONTONASAL DYSPLASIA 1; FND1 Is also known as frontonasal malformation|fnm|frontonasal dysplasia|median facial cleft syndrome|frontorhiny|fnd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about FRONTONASAL DYSPLASIA 1; FND1

Top 5 symptoms//phenotypes associated to Flexion contracture and Growth hormone deficiency

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Growth hormone deficiency. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Depressed nasal bridge Talipes equinovarus Hypogonadism Generalized hypotonia Pyloric stenosis Dilatation Failure to thrive Muscle weakness Motor delay Global developmental delay Micropenis Abnormality of the skeletal system Hyperhidrosis Feeding difficulties in infancy Recurrent infections Cleft palate Nystagmus Neonatal hypotonia Epicanthus Long eyelashes Sparse and thin eyebrow Feeding difficulties Hyperkeratosis Ptosis Fine hair Myopathy Protruding ear Strabismus Frontal bossing Hypodontia Long philtrum Polydactyly Upslanted palpebral fissure Osteopenia Wide nose Hip dislocation Arrhythmia Osteoporosis Sensorineural hearing impairment Progressive proximal muscle weakness Cataract Hypertelorism Camptodactyly of finger Abnormality of the genital system Microphthalmia Spinal rigidity Mandibular prognathia Congenital hip dislocation

Rare Symptoms - Less than 30% cases

Hyperlordosis Ventricular hypertrophy Postnatal growth retardation Hirsutism Hepatic steatosis Epidermal acanthosis Atrial fibrillation Hypertriglyceridemia Palpitations Myalgia Hypertension Elevated hepatic transaminase Supraventricular tachycardia Postaxial polydactyly Postaxial hand polydactyly Interphalangeal joint contracture of finger Split hand Hypoplastic toenails Hypoplastic nipples Absent radius Sparse axillary hair Hypothyroidism Wide nasal base Hepatomegaly Vomiting Congestive heart failure Splenomegaly Delayed skeletal maturation Diabetes mellitus Insulin resistance Prominent superficial veins Bradycardia Short palm Toe syndactyly Oral cleft Hypoplasia of the maxilla Microdontia Proximal placement of thumb Aplasia/Hypoplasia of the thumb Micrognathia Short nose Alopecia Small for gestational age Small hand Sparse hair Short thumb Microcephaly Brachydactyly Wide nasal bridge Intrauterine growth retardation Anteverted nares Intellectual disability, mild Abnormality of cardiovascular system morphology Clinodactyly Underdeveloped nasal alae Radial deviation of finger Nail dystrophy Cleft lip Muscle stiffness Secondary amenorrhea Pointed chin Accelerated skeletal maturation Acanthosis nigricans Atherosclerosis Pancreatitis Polycystic ovaries Prominent supraorbital ridges Hyperinsulinemia Lipodystrophy Skeletal muscle hypertrophy Lipoatrophy IgA deficiency Hypospadias Anal atresia Exercise-induced myalgia Generalized lipodystrophy Prolonged QTc interval Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Abnormal levels of creatine kinase in blood Congenital generalized lipodystrophy Abnormality of skeletal muscle fiber size Ventriculomegaly Tachycardia Immunodeficiency Peripheral neuropathy Seizures Macrotia Thick eyebrow High palate Nasal speech Joint stiffness Intellectual disability, moderate Abnormal facial shape Round face Muscular hypotonia Narrow mouth Facial palsy Skeletal dysplasia Intellectual disability, severe Posteriorly rotated ears Generalized muscle weakness Muscular dystrophy Joint laxity Abnormality of mitochondrial metabolism Camptodactyly Kyphoscoliosis Proximal muscle weakness Inguinal hernia Obesity Hernia Increased variability in muscle fiber diameter Rigidity Mildly elevated creatine phosphokinase Congenital cataract Skin erosion Downslanted palpebral fissures Bilateral radial aplasia Juvenile cataract Genu valgum Iris atrophy Duodenal stenosis Distal sensory impairment Delayed speech and language development Sensory neuropathy Forearm reduction defects Zonular cataract Annular pancreas Aplasia/Hypoplasia of the patella Delayed puberty Hypoplasia of the corpus callosum Low-set, posteriorly rotated ears Joint hyperflexibility Facial asymmetry Hypermetropia Severe global developmental delay Broad forehead Prominent nasal bridge Attention deficit hyperactivity disorder Autistic behavior Developmental regression Muscular hypotonia of the trunk Hypertonia Aggressive behavior Deeply set eye High forehead Polyhydramnios Autism Hyperactivity Pes cavus Prominent forehead Patellar aplasia Acantholysis Osteosarcoma Rectovaginal fistula Mesoaxial polydactyly Spondyloepiphyseal dysplasia Progressive sensorineural hearing impairment Spinal canal stenosis Diarrhea Anemia Achalasia Fasting hypoglycemia Neoplasm Absence of Stensen duct Generalized microdontia Periorbital hyperpigmentation Transverse vaginal septum Abnormality of the inner ear Erythema Aplasia/Hypoplasia of the breasts Megacystis Urethral atresia Dacryocystitis Ureterocele Abnormality of the middle ear Nail pits Abnormality of the nasopharynx Duplicated collecting system Thin nail Urethral stenosis Selective tooth agenesis Glaucoma Skin rash Concave nasal ridge Dermal atrophy Poikiloderma Arachnodactyly Proportionate short stature Anteriorly placed anus Increased number of teeth Skin vesicle Absent thumb Agenesis of permanent teeth Basal cell carcinoma Premature graying of hair Squamous cell carcinoma Sarcoma Neoplasm of the skin Sensorimotor neuropathy Sensory impairment Telangiectasia Short palpebral fissure Cutaneous photosensitivity Microcornea Hypopigmentation of the skin Delayed eruption of teeth Short foot Hip dysplasia Bilateral sensorineural hearing impairment Flat face Corneal opacity Smooth philtrum Highly arched eyebrow Long face Abnormality of the face Partial agenesis of the corpus callosum Multiple lipomas Adrenal insufficiency Diabetes insipidus Anophthalmia Preaxial polydactyly Easy fatigability Scrotal hypoplasia Joint contracture of the hand Preauricular skin tag Lymphedema Heterotopia Facial cleft Encephalocele Oligohydramnios Tetralogy of Fallot Decreased testicular size Dandy-Walker malformation Broad nasal tip Postural instability Talipes Hypotrichosis Coloboma Craniosynostosis Occipital encephalocele Median cleft lip Conductive hearing impairment Parietal foramina Midline facial cleft Pectoral muscle hypoplasia/aplasia Frontal cutaneous lipoma Lipoma of corpus callosum Cranium bifidum occultum Morning glory anomaly Scleral staphyloma Widely-spaced maxillary central incisors Hypoplastic frontal sinuses Absent tibia Median cleft palate Broad columella Lipoma Bifid nose Agenesis of cerebellar vermis Broad philtrum Alopecia totalis Bifid nasal tip Conical tooth Preaxial foot polydactyly Widow's peak Calvarial skull defect Short columella Coronal craniosynostosis Meningocele Telecanthus Brachycephaly Thin vermilion border Open mouth Cupped ear Abnormality of the thorax Abnormality of the voice Abnormality of the outer ear Widely spaced teeth Sandal gap Microretrognathia Bilateral single transverse palmar creases Narrow face Hoarse voice Cafe-au-lait spot Thick lower lip vermilion Slender finger Small nail Congenital diaphragmatic hernia Hyporeflexia Delayed myelination Tapered finger Single transverse palmar crease Sleep disturbance Inflammatory abnormality of the eye High, narrow palate Iris coloboma Polymicrogyria Mild short stature Abnormality of digit Agenesis of corpus callosum Dysplastic corpus callosum Abnormal heart morphology Atrial septal defect Hydrocephalus Macrocephaly Low-set ears Abnormality of the proximal phalanx of the thumb Medial flaring of the eyebrow Gastrointestinal atresia Conspicuously happy disposition Long palm Large fleshy ears Anisocoria Insomnia Flared nostrils Toe clinodactyly Deep plantar creases Thick nasal alae Unilateral cryptorchidism Abnormality of nervous system morphology Thick hair Intestinal atresia Microphallus Overlapping fingers Thick upper lip vermilion High anterior hairline Central diabetes insipidus Blue irides Bladder diverticulum Axillary apocrine gland hypoplasia Elevated serum creatine phosphokinase Dolichocephaly Arthrogryposis multiplex congenita Lactic acidosis Decreased fetal movement Nephrolithiasis Dysphagia Hypergonadotropic hypogonadism Increased body weight Unilateral oligodactyly Deformed radius Retrognathia Long uvula Short 5th toe Short 4th toe Imperforate hymen Aplasia of the pectoralis major muscle Laryngeal web Hernia of the abdominal wall Absent axillary hair Abnormal external genitalia Body odor Aplasia of the ulna Constipation Acidosis Absent hand Slender build Ventricular tachycardia Difficulty climbing stairs Ankle contracture Hyperlipidemia Recurrent lower respiratory tract infections Proximal amyotrophy Recurrent bacterial infections Exercise intolerance Follicular hyperkeratosis Type 1 muscle fiber predominance Muscle fiber necrosis Hepatosplenomegaly Nocturnal hypoventilation Thin skin Impaired mastication Hyperextensibility at wrists Increased laxity of fingers Increased laxity of ankles Sudden cardiac death Spastic paraplegia Distal muscle weakness Fatigue Areflexia Ectopic posterior pituitary Abnormality of the radius Reduced bone mineral density Neonatal hypoglycemia Oligodactyly Polyphagia Short humerus Hyperthyroidism Decreased fertility External genital hypoplasia Hypoplasia of the ulna Central hypotonia Bifid scrotum Hand polydactyly Laryngomalacia Shawl scrotum Hypoplasia of the radius Abnormality of the metacarpal bones Abnormality of the fingernails Severe failure to thrive Cystinuria Renal hypoplasia Ventricular septal defect Hypoplasia of penis Abnormality of the dentition Convex nasal ridge Short distal phalanx of finger Anal stenosis Inverted nipples Abnormality of temperature regulation Gonadotropin deficiency Laryngeal stenosis Aplasia/Hypoplasia of the ulna Broad eyebrow Subglottic stenosis Gastroschisis Breast aplasia Anterior pituitary hypoplasia Abnormality of the humerus Hypocalcemia Breast hypoplasia Perimembranous ventricular septal defect Broad face Short clavicles Abnormality of the uterus Wolff-Parkinson-White syndrome Sparse lateral eyebrow Severe muscular hypotonia Tented upper lip vermilion Ectopic anus Abnormality of the wrist Hypoplastic scapulae Abnormality of finger Abnormality of the clavicle Sprengel anomaly Delayed gross motor development Ventricular arrhythmia Aplasia/Hypoplasia of the nipples Renal agenesis Abnormality of dental enamel Hypogonadotrophic hypogonadism Hypohidrosis Hypoplasia of dental enamel Recurrent urinary tract infections Renal dysplasia Choanal atresia Sparse scalp hair Multiple skeletal anomalies Cervical spinal canal stenosis Lymphoma Cutaneous syndactyly Ectodermal dysplasia Vesicoureteral reflux Nevus Periarticular subcutaneous nodules Cleft upper lip Dry skin Carious teeth Respiratory insufficiency Kyphosis Finger syndactyly Microtia Sparse eyelashes Renal hypoplasia/aplasia Respiratory failure Pectus carinatum Slow-growing hair Entropion Lacrimation abnormality Anterior hypopituitarism Hypoplasia of the thymus Sparse pubic hair Dysuria Generalized hypopigmentation Corneal erosion Fair hair Taurodontia Depressed nasal tip Coarse hair Split foot Xerostomia Blepharitis External ear malformation Ectrodactyly Prelingual sensorineural hearing impairment Aplasia/Hypoplasia of the skin Hydroureter Keratitis Thoracic kyphoscoliosis Reduced number of teeth Blepharophimosis Hydronephrosis Generalized amyotrophy Ileus Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Scarring Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Pachygyria EMG abnormality Lissencephaly Torticollis Muscle mounding Respiratory insufficiency due to muscle weakness Protuberant abdomen Cachexia Limb-girdle muscular dystrophy Reduced subcutaneous adipose tissue Prolonged QT interval Cutis marmorata Congenital muscular dystrophy Ventricular fibrillation Failure to thrive in infancy Multiple joint contractures Cervical spine instability Adipose tissue loss Photophobia Generalized hirsutism Syndactyly Malar flattening Abnormal oral cavity morphology Arterial stenosis Bone cyst Broad foot Oligomenorrhea Growth hormone excess Glomerulopathy Large hands Precocious puberty Abnormality of the hair Cardiomyopathy Thickened skin Myocardial infarction Pulmonary arterial hypertension Recurrent fractures Nephropathy Hepatic failure Cirrhosis Abnormality of skin pigmentation Abnormality of the foot Hypertrophic cardiomyopathy Renal insufficiency Anterior basal encephalocele


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