Feeding difficulties, and Thin skin

Diseases related with Feeding difficulties and Thin skin

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

Top matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA; CHDED

Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings.Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011).

X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA Is also known as xhed|ectd1|cst syndrome|ed1|christ-siemens-touraine syndrome|eda1|eda|ectodermal dysplasia, anhidrotic, x-linked|ectodermal dysplasia, hypohidrotic, 1|x-linked anhidrotic ectodermal dysplasia|hed1|xlhed|ectodermal dysplasia 1, hypohidrotic/hair/tooth type

Related symptoms:

  • Intellectual disability
  • Feeding difficulties
  • Depressed nasal bridge
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED HYPOHIDROTIC ECTODERMAL DYSPLASIA

Autosomal dominant cutis laxa-3 is characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, and moderate intellectual disability. In addition, patients exhibit a combination of muscular hypotonia with brisk muscle reflexes (Fischer-Zirnsak et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of autosomal dominant cutis laxa, see ARCL1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL DOMINANT 3; ADCL3

Other less relevant matches:

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

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

2Q32Q33 MICRODELETION SYNDROME Is also known as monosomy 2q32-q33|2q32-q33 microdeletion syndrome|del(2)(q32q33)|chromosome 2q32-q33 deletion syndrome|monosomy 2q32q33|del(2)(q32)|monosomy 2q32

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 2Q32Q33 MICRODELETION SYNDROME

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).

EAR-PATELLA-SHORT STATURE SYNDROME Is also known as microtia, absent patellae, micrognathia syndrome|meier-gorlin syndrome|eps|ear, patella, short stature syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about EAR-PATELLA-SHORT STATURE SYNDROME

De Barsy syndrome, or autosomal recessive cutis laxa type III (ARCL3), is characterized by cutis laxa, a progeria-like appearance, and ophthalmologic abnormalities (summary by Kivuva et al., 2008).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see {219100}. Genetic Heterogeneity of de Barsy SyndromeAlso see ARCL3B (OMIM ), caused by mutation in the PYCR1 gene (OMIM ) on chromosome 17q25.

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A Is also known as de barsy syndrome a|cutis laxa, corneal clouding, and mental retardation|progeroid syndrome of de barsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.

NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR Is also known as ns/lah|tosti syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.

MARSHALL-SMITH SYNDROME Is also known as accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MARSHALL-SMITH SYNDROME

Stuve-Wiedemann syndrome (STWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, episodic hyperthermia, and respiratory and feeding distress usually resulting in early death (Dagoneau et al., 2004).See also 'classic' Schwartz-Jampel syndrome type 1 (SJS1 ), a phenotypically similar but genetically distinct disorder caused by mutation in the HSPG2 gene (OMIM ) on chromosome 1p36.

STUVE-WIEDEMANN SYNDROME Is also known as sws|schwartz-jampel syndrome, type 2|stws|stuve-wiedemann/schwartz-jampel type 2 syndrome|schwartz-jampel syndrome, neonatal|sjs2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STUVE-WIEDEMANN SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Thin skin

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Frontal bossing Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Feeding difficulties and Thin skin. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Low-set ears

Uncommon Symptoms - Between 30% and 50% cases

Postnatal growth retardation

Common Symptoms - More than 50% cases

Talipes equinovarus

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Prominent forehead

Common Symptoms - More than 50% cases

Micrognathia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the skeletal system Strabismus Muscular hypotonia High palate Hernia Sparse hair Failure to thrive High forehead Microcephaly Delayed skeletal maturation Osteopenia Posteriorly rotated ears Midface retrusion Malar flattening Hearing impairment Abnormal facial shape Hypertelorism Flexion contracture Anteverted nares Osteoporosis Short nose Depressed nasal bridge Hypertension Patent ductus arteriosus Respiratory distress Delayed speech and language development Hyperhidrosis Corneal opacity Reduced subcutaneous adipose tissue Thin vermilion border Adducted thumb Talipes Joint hyperflexibility Camptodactyly Narrow mouth Joint laxity Atrial septal defect Ectodermal dysplasia Intrauterine growth retardation Macrocephaly Microdontia Inguinal hernia Sparse scalp hair Thin ribs Protruding ear Short palpebral fissure Prominent nasal bridge Pectus excavatum Respiratory failure Growth hormone deficiency Long eyelashes Joint hypermobility Vomiting Craniosynostosis Retrognathia Dermal translucency Hoarse voice Seizures Cryptorchidism Umbilical hernia

Rare Symptoms - Less than 30% cases

Atlantoaxial dislocation Respiratory insufficiency Myopia Absent speech Ventricular hypertrophy Ventricular septal defect Accelerated skeletal maturation Reduced bone mineral density Bowing of the long bones Cleft palate Pulmonary arterial hypertension Recurrent fractures Downslanted palpebral fissures Brachydactyly Spasticity Ptosis Failure to thrive in infancy Hyperreflexia Kyphosis Hypoplasia of the corpus callosum Hyperactivity Clinodactyly of the 5th finger Pectus carinatum Macrotia Clinodactyly Severe short stature Neurodevelopmental delay Gastroesophageal reflux Blepharophimosis High, narrow palate Short neck Small hand Opacification of the corneal stroma Elbow flexion contracture Thick lower lip vermilion Blue sclerae Decreased fetal movement Ventriculomegaly Narrow nose Visual loss Short philtrum Brachycephaly Slender long bone Increased body weight Agenesis of corpus callosum Mild short stature Attention deficit hyperactivity disorder Overfolded helix Abnormality of cardiovascular system morphology Patent foramen ovale Nasal speech Thick eyebrow Hirsutism Fine hair Relative macrocephaly Bilateral talipes equinovarus Short palm Apnea Hypothyroidism Wormian bones Autism Short distal phalanx of finger Thick vermilion border Broad forehead Hip dislocation Triangular face Hypoplasia of the maxilla Underdeveloped nasal alae Dysphagia Eczema Recurrent infections Cutis laxa Aplasia/Hypoplasia of the eyebrow Sparse and thin eyebrow Short chin Spinal canal stenosis Premature skin wrinkling Calcaneovalgus deformity Prominent supraorbital ridges Muscle weakness Cataract Hypotrichosis Abnormality of the dentition Broad thumb Motor delay Intellectual disability, severe Fever Abnormal cardiac septum morphology Conical tooth Fragile nails Dry skin Flexion contracture of toe Short tibia Episodic fever Cafe-au-lait spot Epicanthus Hyperpigmentation of the skin Hypocalcemia Prominent superficial blood vessels Cardiomyopathy Abnormality of the fingernails Abnormal palate morphology Hypoargininemia Infantile muscular hypotonia Polar cataract Corneal arcus Wide cranial sutures Hydrocephalus Ulnar deviation of the hand Mitral regurgitation Excessive wrinkled skin Megaloblastic anemia Ichthyosis Carious teeth Pulmonic stenosis Enlarged joints Dolichocephaly Wide intermamillary distance Low-set, posteriorly rotated ears Low posterior hairline Dandy-Walker malformation Hypertrophic cardiomyopathy Cyanosis Hypoglycemia Coarctation of aorta Webbed neck Wide nasal base Narrow nasal ridge Prematurely aged appearance Overlapping fingers Blotching pigmentation of the skin Distal amyotrophy Abnormality of skin pigmentation Scarring Difficulty walking Increased upper to lower segment ratio Shivering Mandibular prognathia Broad ischia Absent patellar reflexes Abnormal metaphyseal trabeculation Tremor Smooth tongue Skeletal muscle atrophy Pulmonary arterial medial hypertrophy Morgagni diaphragmatic hernia Absent glenoid fossa Incomplete partition of the cochlea type II Flat glenoid fossa Microtia, third degree Short ear Absent sternal ossification Abnormality of the patella Hypotelorism Large fontanelles Temperature instability Square face Progeroid facial appearance Severe failure to thrive Severe intrauterine growth retardation Broad long bones Thickened cortex of long bones Subcapsular cataract Talipes valgus Increased intracranial pressure Multiple skeletal anomalies Congenital glaucoma Multiple joint contractures Wide anterior fontanel Mitochondrial respiratory chain defects Pursed lips Athetosis Redundant skin Poor suck Hyperextensible skin Hyperammonemia Elevated pulmonary artery pressure Contracture of the proximal interphalangeal joint of the 5th finger Congenital hip dislocation Hypoplastic iliac body Arnold-Chiari malformation Hypokinesia Optic nerve hypoplasia Choanal atresia Sleep apnea Generalized hirsutism Gingival overgrowth Tall stature Decreased body weight Pachygyria Peripheral neuropathy Skeletal dysplasia Omphalocele Open mouth Hepatic failure Incoordination Pulmonary hypoplasia Overgrowth Aciduria Bruising susceptibility Polymicrogyria Synophrys Mandibular aplasia Conductive hearing impairment Pes planus Kyphoscoliosis Proptosis Laryngomalacia Increased susceptibility to fractures Pneumonia Large sternal ossification centers Prominence of the premaxilla Short mandibular rami Laryngeal hypoplasia Macrogyria Septo-optic dysplasia Irregular dentition Recurrent aspiration pneumonia Dicarboxylic aciduria Eclabion Short sternum Abnormality of the larynx Villous atrophy Protruding tongue Upper airway obstruction Choanal stenosis Distal widening of metacarpals Obstructive sleep apnea Pain Shallow orbits Glossoptosis Megalocornea Anemia Poor appetite Hypoplasia of the odontoid process Cerebellar hypoplasia Cerebral atrophy Coarse hair Mask-like facies Aminoaciduria Abnormality of dental enamel Spastic paraparesis Metaphyseal widening Arnold-Chiari type I malformation Atopic dermatitis Natal tooth Congenital contracture Cubitus valgus Myotonia Freckling Abnormality of the elbow Abnormality of coagulation Right bundle branch block Hypoplastic toenails Flared metaphysis Femoral bowing Tibial bowing Bullet-shaped middle phalanges of the hand Pathologic fracture Deep philtrum Impaired pain sensation Ulnar deviation of finger Broad neck Knee flexion contracture Fatigue Slow-growing hair Optic atrophy Abnormality of the nasal bridge Broad fingertip Single transverse palmar crease Loose anagen hair Abnormal location of ears Superior pectus carinatum Abnormality of the intervertebral disk Abnormality of the pulmonary artery Thickened helices Peripheral pulmonary artery stenosis Abnormality of refraction Hiatus hernia Redundant neck skin Abnormality of the testis Enlarged cisterna magna Abnormally large globe Hypomagnesemia Limb undergrowth Short phalanx of finger Sensorimotor neuropathy Narrow face Abnormal autonomic nervous system physiology Paraparesis Small anterior fontanelle Incomprehensible speech Birth length less than 3rd percentile Generalized muscle weakness Recurrent bacterial infections Exercise intolerance Pointed chin Muscle stiffness Bradycardia Insulin resistance Palpitations Hypertriglyceridemia Atrial fibrillation Epidermal acanthosis Sudden cardiac death Hepatic steatosis Hyperlipidemia Tachycardia Spastic paraplegia Muscular dystrophy Distal muscle weakness Joint stiffness Hyperlordosis Myalgia Proximal muscle weakness Neonatal hypotonia Elevated hepatic transaminase Rigidity Acanthosis nigricans Atherosclerosis Diabetes mellitus Spinal rigidity Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Progressive proximal muscle weakness Protuberant abdomen IgA deficiency Secondary amenorrhea Lipoatrophy Prolonged QT interval Pancreatitis Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Lipodystrophy Hyperinsulinemia Pyloric stenosis Polycystic ovaries Ventricular arrhythmia Delayed gross motor development Ventricular tachycardia Hepatosplenomegaly Constipation Loss of subcutaneous adipose tissue in limbs Type I diabetes mellitus Soft skin Absent eyelashes Rhinitis Hypoplastic nipples Sparse body hair Agenesis of permanent teeth Anhidrosis Absent eyebrow Brittle hair Dysphonia Sparse eyelashes Hypohidrosis Anodontia Depressed nasal ridge Hypodontia Delayed eruption of teeth Everted lower lip vermilion Respiratory tract infection Recurrent respiratory infections Immunodeficiency Premature loss of primary teeth Widely spaced teeth Abnormal heart morphology Syndactyly Nystagmus Taurodontia Heat intolerance Elevated serum creatine phosphokinase Spontaneous abortion Arrhythmia Dilatation Splenomegaly Congestive heart failure Myopathy Hepatomegaly Small foramen magnum Delayed cranial suture closure Brisk reflexes Unilateral renal agenesis Aortic regurgitation Oligohydramnios Anterior hypopituitarism Congenital cataract Autistic behavior Hypoplastic-absent sebaceous glands Aplasia/Hypoplastia of the eccrine sweat glands Periorbital hyperpigmentation Periorbital wrinkles Everted upper lip vermilion Abnormal oral mucosa morphology Hypohidrotic ectodermal dysplasia Anhidrotic ectodermal dysplasia Absent nipple Concave nail Dysmenorrhea Fasting hyperinsulinemia Hypoplastic labia minora Camptodactyly of finger Short ribs Joint contracture of the hand Abnormality of epiphysis morphology Abnormality of the ribs Hypoplasia of penis Specific learning disability Bifid uvula Genu valgum Arthrogryposis multiplex congenita Small for gestational age Microtia Feeding difficulties in infancy Hemivertebrae Dyspnea Micropenis Hypogonadism Hypospadias Narrow jaw Conspicuously happy disposition Narrow maxilla Dacryocystitis Large beaked nose Median cleft palate Toe clinodactyly Coxa valga Abnormality of the outer ear Pes valgus Patellar aplasia Clitoral hypoplasia Hyperconvex nail Breast aplasia Epispadias Aplastic clavicle Aplasia/Hypoplasia of the patella Lateral clavicle hook Osteochondritis Dissecans Unilateral cryptorchidism Breast hypoplasia Anotia Breech presentation Genu varum Hypoplastic labia majora Aseptic necrosis Shawl scrotum Submucous cleft hard palate Cutaneous finger syndactyly Disproportionate short stature Severe hearing impairment Emphysema Clitoral hypertrophy Elbow dislocation Atresia of the external auditory canal Abnormality of pelvic girdle bone morphology Happy demeanor Overbite Abnormal levels of creatine kinase in blood Thin upper lip vermilion Wide nose Bulbous nose Long face Arachnodactyly Smooth philtrum Poor speech Facial asymmetry Abnormality of the foot Abnormality of the cerebral white matter Aggressive behavior Anxiety Long philtrum Sleep disturbance Behavioral abnormality Wide nasal bridge Adipose tissue loss Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Downturned corners of mouth Prominent nose Excessive salivation Abnormality of dental morphology Generalized osteoporosis Cleft soft palate Broad hallux phalanx Short columella Self-mutilation Abnormality of the periventricular white matter Restlessness Abnormality of digit Long nose Myopathic facies Overlapping toe Dermal atrophy Dental malocclusion Tented upper lip vermilion Oligodontia Drooling Microretrognathia Dental crowding Broad-based gait Hemiparesis Intellectual disability, profound Decreased testicular size Convex nasal ridge Febrile seizures Nail dysplasia Metaphyseal rarefaction


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