Feeding difficulties, and Hypopigmentation of the skin

Diseases related with Feeding difficulties and Hypopigmentation of the skin

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


Top matches:

Low match EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE


Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis|ebs, generalized severe|epidermolysis bullosa simplex, dowling-meara type

Related symptoms:

  • Failure to thrive
  • Feeding difficulties
  • Constipation
  • Nail dystrophy
  • Palmoplantar keratoderma


SOURCES: ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

Low match BENIGN CHRONIC PEMPHIGUS; BCPM


Hailey-Hailey disease, also known as benign chronic pemphigus, is a rare autosomal dominant cutaneous disorder that usually becomes manifest in the third or fourth decade of life with erythema, vesicles, and erosions involving the body folds, particularly the groin and axillary regions. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected (summary by Poblete-Gutierrez et al., 2004).This disorder was first described by the dermatologist brothers Hailey and Hailey (1939).

BENIGN CHRONIC PEMPHIGUS; BCPM Is also known as hhd|hailey-hailey disease|pemphigus, benign familial

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Neoplasm
  • Pain


SOURCES: OMIM MENDELIAN

More info about BENIGN CHRONIC PEMPHIGUS; BCPM

Low match HERMANSKY-PUDLAK SYNDROME 10; HPS10


Hermansky-Pudlak syndrome-10 is an autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures (summary by Ammann et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 10; HPS10

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Other less relevant matches:

Low match CROUZON SYNDROME-ACANTHOSIS NIGRICANS SYNDROME


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

Low match ANGELMAN SYNDROME; AS


Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match MENKES DISEASE


Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Low match PITT-HOPKINS SYNDROME


Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

PITT-HOPKINS SYNDROME Is also known as encephalopathy, severe epileptic, with autonomic dysfunction|mental retardation, syndromal, with intermittent hyperventilation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PITT-HOPKINS SYNDROME

Low match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Low match FAMILIAL BENIGN CHRONIC PEMPHIGUS


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

Top 5 symptoms//phenotypes associated to Feeding difficulties and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Microcephaly Growth delay Strabismus Muscular hypotonia Hearing impairment Vomiting Skin rash Cryptorchidism Albinism Hypertelorism Intellectual disability, progressive Brachycephaly Abnormal palate morphology Intellectual disability, severe Micrognathia Erythema Sensorineural hearing impairment Abnormal facial shape Motor delay Myopia Sparse hair Mandibular prognathia Hypogonadism Diarrhea Cataract Constipation Nail dystrophy Frontal bossing Osteoporosis

Rare Symptoms - Less than 30% cases


Hyperpigmentation of the skin Retinal dystrophy Astigmatism Convex nasal ridge Sleep disturbance Pigmentary retinopathy Hypoplasia of the maxilla Dry skin Macrocephaly Small hand Hyperkeratosis Fatigue Pain Midface retrusion Generalized-onset seizure Intellectual disability, profound Hydrocephalus Hernia Status epilepticus Optic atrophy Dilated cardiomyopathy Cleft palate Behavioral abnormality Specific learning disability Dermal atrophy Abnormality of retinal pigmentation Anteriorly placed anus Dysphasia Skin vesicle Aphasia Ataxia Scoliosis Encephalopathy Neoplasm Inguinal hernia Gait ataxia Hypopigmented skin patches Mutism Absent speech Autism Echolalia Gastroesophageal reflux Proportionate short stature Deeply set eye Anxiety Feeding difficulties in infancy Autistic behavior Ocular albinism Neurological speech impairment Wide mouth Visual impairment Abnormality of the face Basal cell carcinoma Postnatal microcephaly Jaundice Alopecia Acantholysis Concave nasal ridge Poikiloderma Osteosarcoma Glaucoma Visual loss Coarse hair Squamous cell carcinoma Hypoglycemia Abnormality of metabolism/homeostasis Telangiectasia Sparse scalp hair Cutaneous photosensitivity Overgrowth Abnormality of skin pigmentation Cardiomyopathy Happy demeanor Postnatal growth retardation Microphthalmia Hypertension Hepatomegaly Nystagmus Corneal opacity Talipes equinovarus Severe global developmental delay Exotropia Micropenis Abnormal blistering of the skin Widely spaced teeth Hypertrophic cardiomyopathy Full cheeks Anal atresia Incoordination EEG abnormality Cerebellar atrophy Retrognathia Self-injurious behavior Wide nasal bridge Pneumonia Abnormality of the skeletal system Cerebral atrophy Clubbing of fingers Small cerebral cortex Abnormal pattern of respiration Pes valgus Triangular nasal tip Acrocyanosis Abnormality of the helix Large beaked nose Broad fingertip Failure of eruption of permanent teeth Narrow foot Intermittent hyperventilation Esophagitis Misalignment of teeth Breathing dysregulation Thickened helices Square face Thick lower lip vermilion Hiatus hernia Hypocupremia Pes planus Coarse facial features Upslanted palpebral fissure Pes cavus Clinodactyly Hypoplasia of the corpus callosum Short neck Anteverted nares Depressed nasal bridge Therapeutic abortion Metaphyseal spurs Abnormal carotid artery morphology Multiple joint dislocation Intellectual disability, moderate Spontaneous hematomas Arterial stenosis Venous insufficiency Trichorrhexis nodosa Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Pili torti Woolly hair Hypothermia Atypical scarring of skin Exostoses Aggressive behavior Apnea Hyperventilation Open mouth Hodgkin lymphoma Supernumerary nipple Overlapping toe Cupped ear Clubbing Short metatarsal Sleep apnea Aplasia/Hypoplasia of the corpus callosum Finger clinodactyly Abnormal autonomic nervous system physiology Truncal ataxia Aganglionic megacolon Ventricular septal defect Abnormality of the pinna Zonular cataract Narrow forehead Cyanosis Wide intermamillary distance Prominent nose Abdominal distention Single transverse palmar crease Tapered finger Thick vermilion border Thick eyebrow Prominent nasal bridge Short philtrum Protruding ear Overhanging nasal tip Amblyopia Respiratory distress Chorioretinal dysplasia Flexion contracture Anemia Anal fistula Aplasia/Hypoplasia of the patella Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Abnormal vitreous humor morphology Kyphoscoliosis Abnormality of the fallopian tube Arteria lusoria Functional motor deficit Ovotestis Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Short nose Skeletal dysplasia Chordee Congenital hip dislocation Absent radius Aplasia/Hypoplasia of the thumb Rectovaginal fistula Patellar aplasia Increased number of teeth Absent thumb Agenesis of permanent teeth Premature graying of hair Pyloric stenosis Sarcoma Neoplasm of the skin Short thumb Small for gestational age Skin erosion Short palpebral fissure Microdontia Growth hormone deficiency Hypodontia Microcornea Delayed eruption of teeth Short foot Short palm Flat face Hip dislocation Abnormality of earlobe Periventricular leukomalacia Atrial septal defect Abnormal cardiac septum morphology Abnormality of dental enamel Abnormality of the nail Cafe-au-lait spot Mitral regurgitation Congenital diaphragmatic hernia Ambiguous genitalia Mitral valve prolapse Iris coloboma Wide nose Tachycardia Coloboma Hypopigmentation of hair Blepharophimosis Dyspnea Respiratory failure Severe short stature Agenesis of corpus callosum Abnormal heart morphology Arrhythmia Hypospadias Abnormality of cardiovascular system morphology Syndactyly Blindness Sacral dimple Patent foramen ovale Colpocephaly Aplasia/Hypoplasia of the skin Abnormality of the testis Supraventricular tachycardia Retinal dysplasia Abnormal eyelid morphology Sclerocornea Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Absent septum pellucidum Abnormality of the ear Clitoral hypertrophy Congenital glaucoma Hypoplasia of the uterus Iris atrophy Duodenal stenosis Annular pancreas Juvenile cataract Preauricular pit Bilateral radial aplasia Tricuspid regurgitation Ventricular fibrillation Anophthalmia Abnormality of lipid metabolism Gastrointestinal inflammation Prolonged neonatal jaundice Laryngomalacia Brachyturricephaly Abnormal sacrum morphology Craniofacial dysostosis Inflammatory abnormality of the eye Cloverleaf skull Choanal stenosis Turricephaly Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Glomerulonephritis Increased intracranial pressure Membranous nephropathy Abnormality of the metacarpal bones Arnold-Chiari malformation Acanthosis nigricans Abnormal form of the vertebral bodies Choanal atresia Epidermal acanthosis Short metacarpal Dental malocclusion Migraine Nevus Bicoronal synostosis Short uvula Conductive hearing impairment Focal-onset seizure Atonic seizures Keratoconus Polyphagia Flat occiput Hyperkinesis Drooling Cerebral palsy Aspiration Clumsiness Broad-based gait Macroglossia Hyperreflexia Abnormal cerebellum morphology Falls Infertility Abnormality of movement Hypermetropia Cerebral cortical atrophy Hyperactivity Obesity Kyphosis Fever Craniosynostosis High forehead Drowsiness Carcinoma Low-set ears Acrokeratosis Lamellar cataract Alopecia of scalp Severe vision loss Striae distensae Erythroderma Melanoma Eczema Leukemia Osteopenia Splenomegaly Hyperhidrosis Prominent forehead Abnormality of the dentition Edema Oral mucosal blisters Squamous cell carcinoma of the skin Atrophic scars Milia Recurrent skin infections Palmoplantar keratoderma Dystonia Immunodeficiency Proptosis Hypotelorism Posteriorly rotated ears Malar flattening Renal insufficiency Respiratory insufficiency Downslanted palpebral fissures Brachydactyly Ptosis Pierre-Robin sequence Arachnoid cyst Interstitial pulmonary abnormality Delayed myelination Recurrent infections Abnormal bleeding Generalized myoclonic seizures Neutropenia Smooth philtrum Generalized tonic-clonic seizures Muscular hypotonia of the trunk Abnormality of the nervous system Hepatosplenomegaly Macrotia Recurrent respiratory infections Protruding tongue Overweight Tarsal synostosis Dilatation Neurodegeneration Joint hyperflexibility Narrow chest Nausea and vomiting Malabsorption Developmental regression Joint laxity Umbilical hernia Dementia Pectus excavatum Hypertonia Sepsis Intrauterine growth retardation Dysarthria Spasticity Muscle weakness 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Reye syndrome-like episodes Acute hepatic steatosis Recurrent fractures Chorea Abnormal chorioretinal morphology Cutis laxa Prominent occiput Opisthotonus Osteomyelitis Myopathic facies Cerebral hemorrhage Mask-like facies Metaphyseal widening Intracranial hemorrhage Hyperextensible skin Shock Spastic tetraparesis Gastrointestinal hemorrhage Joint dislocation Wormian bones Thickened skin Chronic diarrhea Bowing of the long bones Abnormality of the metaphysis Choreoathetosis Progressive neurologic deterioration Fine hair Tetraparesis Elevated plasma acylcarnitine levels Hepatic encephalopathy Epileptic spasms Paroxysmal bursts of laughter Retinopathy Abnormality of the liver Elevated hepatic transaminase Photophobia Abdominal pain Elevated serum creatine phosphokinase Congestive heart failure Myopathy Peripheral neuropathy Anisometropia Tongue thrusting Peripheral axonal neuropathy Large foramen magnum Sleep-wake cycle disturbance Inappropriate laughter Limb tremor Moderate global developmental delay Profound global developmental delay Short attention span Fair hair Blue irides Progressive gait ataxia Nyctalopia Nausea Abnormal left ventricle morphology Abnormal electroretinogram Decreased plasma carnitine Reduced consciousness/confusion Cholestatic liver disease Hypoketotic hypoglycemia Recurrent hypoglycemia Preeclampsia Rhabdomyolysis Multiple lipomas Chorioretinal atrophy Loss of consciousness Tachypnea Hepatic failure Hypocalcemia Sensorimotor neuropathy Decreased liver function Anorexia Peripheral demyelination Brain atrophy Coma Polyneuropathy Metabolic acidosis Hepatic steatosis Forearm reduction defects



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