Feeding difficulties, and Camptodactyly of finger

Diseases related with Feeding difficulties and Camptodactyly of finger

In the following list you will find some of the most common rare diseases related to Feeding difficulties and Camptodactyly of finger that can help you solving undiagnosed cases.

Top matches:

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI 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

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

Other less relevant matches:

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

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

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

Low match WEAVER SYNDROME

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

WEAVER SYNDROME Is also known as camptodactyly-overgrowth-unusual facies syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MENDELIAN

More info about WEAVER 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

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.

STÜVE-WIEDEMANN SYNDROME Is also known as neonatal schwartz-jampel syndrome|stÜve-wiedemann dysplasia|sjs2|schwartz-jampel syndrome type 2

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about STÜVE-WIEDEMANN SYNDROME

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.

SHELDON-HALL SYNDROME Is also known as arthrogryposis multiplex congenita, distal, type ii, with craniofacial abnormalities|sheldon-hall syndrome|shs|distal arthrogryposis type 2b|fssv|arthrogryposis multiplex congenita, distal, type 2b|freeman-sheldon syndrome variant

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHELDON-HALL SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Camptodactyly of finger

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Talipes equinovarus Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Joint stiffness Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Camptodactyly of finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases

Short stature Feeding difficulties in infancy High palate Muscle weakness Long philtrum Hyperhidrosis Micrognathia Muscular hypotonia Facial palsy Myopathy Seizures Abnormality of the foot Downslanted palpebral fissures Hypertelorism Intrauterine growth retardation Motor delay Respiratory distress Generalized hypotonia Respiratory failure Respiratory insufficiency Cryptorchidism Narrow mouth

Rare Symptoms - Less than 30% cases

Ptosis Severe muscular hypotonia Recurrent lower respiratory tract infections Kyphoscoliosis Protruding ear Trismus Diaphragmatic paralysis Nocturnal hypoventilation Hip dislocation Congenital hip dislocation Abnormality of the metaphysis Hearing impairment Recurrent fractures Wide nasal bridge Multiple joint contractures Neonatal hypotonia Mildly elevated creatine phosphokinase Decreased fetal movement Muscular dystrophy Macrocephaly Short neck Severe short stature Osteoporosis Micromelia Osteopenia Global developmental delay Ulnar deviation of finger Nasal speech Oligohydramnios Abnormality of the dentition Generalized muscle weakness Round face Camptodactyly Rocker bottom foot Short chin Hypertonia Limitation of joint mobility Hypohidrosis Malignant hyperthermia Hyporeflexia Kyphosis Abnormality of cardiovascular system morphology Small for gestational age Paralysis Cachexia Progressive proximal muscle weakness Torticollis Respiratory insufficiency due to muscle weakness Ulnar deviation of the wrist Ulnar deviation of the hand or of fingers of the hand Calcaneovalgus deformity Ankle contracture Abnormality of mitochondrial metabolism Aplasia/Hypoplasia of the radius Spinal rigidity Difficulty climbing stairs Generalized amyotrophy Overlapping fingers Distal arthrogryposis Congenital muscular dystrophy Increased variability in muscle fiber diameter Limb-girdle muscular dystrophy EMG abnormality Lissencephaly Broad foot Broad thumb Tall stature Hoarse voice Abnormality of the fingernails Accelerated skeletal maturation Sandal gap Deep philtrum Redundant skin Large hands Hypoplastic toenails Thin nail Abnormality of the hip bone Deep-set nails Abnormally low-pitched voice Hyperkeratosis Round ear Rigidity Proximal muscle weakness Joint laxity Prominent nasolabial fold Scarring Growth hormone deficiency Pachygyria Proximal amyotrophy Cleft lip Tarsal synostosis Lacrimation abnormality Knee flexion contracture Triangular face Talipes Abnormality of vision Metaphyseal widening Facial asymmetry Impaired pain sensation Episodic fever Arthrogryposis multiplex congenita Abnormal cortical bone morphology Thickened cortex of long bones Webbed neck Ectopic thyroid Decreased corneal reflex Flexion contracture of finger Prominent nasal bridge Smooth tongue Absent patellar reflexes Epicanthus Malar flattening Elevated serum creatine phosphokinase Posteriorly rotated ears Abnormal autonomic nervous system physiology Narrow face Follicular hyperkeratosis Hypothyroidism Mandibular prognathia Type 1 muscle fiber predominance Slender build Muscle fiber necrosis Impaired mastication Abnormality of the ear Hyperextensibility at wrists Increased laxity of fingers Vertebral segmentation defect Increased laxity of ankles Skeletal dysplasia Elbow flexion contracture Metatarsus adductus Congenital contracture Apnea Adducted thumb Abnormality of the eye Genu valgum Paresthesia Asthma Bowing of the long bones Narrow palpebral fissure Bilateral single transverse palmar creases Sacral dimple Short palm Fine hair Hypoventilation Peripheral axonal neuropathy Distal amyotrophy Urinary incontinence Premature birth Progressive muscle weakness Tachypnea Decreased nerve conduction velocity Spinal muscular atrophy Axonal degeneration Weak cry EMG: neuropathic changes Limb muscle weakness Degeneration of anterior horn cells Diaphragmatic eventration Inspiratory stridor Diaphragmatic weakness Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Strabismus Hernia Polyhydramnios Deeply set eye Lower limb muscle weakness Distal muscle weakness Underdeveloped nasal alae Severe global developmental delay Cognitive impairment Anteverted nares Wide nose Sudden cardiac death Full cheeks Large face Microcephaly Ventriculomegaly Clinodactyly Clinodactyly of the 5th finger Oral cleft Constipation Prominent nose Sloping forehead Interphalangeal joint contracture of finger Finger clinodactyly Abnormal joint morphology Abnormal lung lobation Severe intrauterine growth retardation Severe postnatal growth retardation Pain Peripheral neuropathy Skeletal muscle atrophy Neurological speech impairment Depressed nasal ridge Hypoplasia of penis Abnormality of the gastrointestinal tract Skin ulcer Recurrent bacterial infections Polycystic ovaries Increased susceptibility to fractures Urticaria Abnormality of dental morphology Steatorrhea Telangiectasia of the skin Abnormality of the musculature Osteomalacia Abnormality of the adrenal glands Lymphedema Aplasia/Hypoplasia of the thymus Intellectual disability Spasticity Inguinal hernia Pes cavus Macrotia Retrognathia Low-set, posteriorly rotated ears Broad forehead Finger syndactyly Joint hyperflexibility Hyperpigmentation of the skin Gingival overgrowth Dimple chin Restrictive ventilatory defect Prenatal movement abnormality Absent palmar crease Cleft palate Dysphagia Pectus excavatum Encephalopathy Areflexia Gastroesophageal reflux Respiratory tract infection Recurrent pneumonia Poor head control Long fingers Chronic diarrhea Bulbar palsy Difficulty running Increased connective tissue Respiratory arrest Increased endomysial connective tissue Brachydactyly Immunodeficiency Coarse facial features Malabsorption Subcutaneous nodule Thickened skin Absent phalangeal crease


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