Feeding difficulties, and Short distal phalanx of finger

Diseases related with Feeding difficulties and Short distal phalanx of finger

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

Top matches:

Medium match DIHYDROPYRIMIDINURIA

Dihydropyrimidinase (DPD) deficiency is a very rare pyrimidine metabolism disorder with a variable clinical presentation including gastrointestinal manifestations (feeding problems, cyclic vomiting, gastroesophageal reflux, malabsorption with villous atrophy), hypotonia, intellectual deficit, seizures, and less frequently growth retardation, failure to thrive, microcephaly and autism. Asymptomatic cases are also reported. DPD deficiency increases the risk of 5-FU toxicity.

DIHYDROPYRIMIDINURIA Is also known as dihydropyrimidinase deficiency|dph deficiency|dihydropyrimidinuria|dpys deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Growth delay
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIHYDROPYRIMIDINURIA

Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly (summary by Wieczorek et al., 2013). Patients with SMARCE1 mutations have a wide spectrum of manifestations, including severe to moderate intellectual disability and heart defects (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 5; CSS5

Brachydactyly-short stature-retinitis pigmentosa syndrome is a rare, genetic, congenital limb malformation syndrome characterized by mild to severe short stature, brachydactyly, and retinal degeneration (usually retinitis pigmentosa), associated with variable intellectual disability, develomental delays, and craniofacial anomalies.

BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Low-set ears


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRACHYDACTYLY-SHORT STATURE-RETINITIS PIGMENTOSA SYNDROME

Other less relevant matches:

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

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 mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

The DOOR syndrome is an acronym for deafness, onychodystrophy, osteodystrophy, and mental retardation. Cantwell (1975) suggested this designation for the disorder, which can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics. Inheritance is autosomal recessive.See also DDOD syndrome (OMIM ), which shows autosomal dominant inheritance of congenital deafness and onychodystrophy without mental retardation.

DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS Is also known as digitorenocerebral syndrome|eronen syndrome|drc syndrome|door syndrome|brachydactyly due to absence of distal phalanges

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND SEIZURES SYNDROME; DOORS

Hyperphosphatasia with mental retardation syndrome-6 (HPMRS6) is an autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic features, seizures, and congenital cataracts. Severity is variable, and the disorder may show a range of phenotypic and biochemical abnormalities, including increased serum alkaline phosphatase levels (summary by Ilkovski et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (OMIM ).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6 Is also known as gpibd12|glycosylphosphatidylinositol biosynthesis defect 12

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6; HPMRS6

Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 6; CSS6

Top 5 symptoms//phenotypes associated to Feeding difficulties and Short distal phalanx of finger

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Delayed speech and language development Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Small nail

Uncommon Symptoms - Between 30% and 50% cases

Brachydactyly

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Wide mouth Depressed nasal bridge Generalized hypotonia Short nose Poor speech High forehead High palate Low-set ears Epicanthus Micrognathia Sparse scalp hair Thin upper lip vermilion Coarse facial features Clinodactyly Thick vermilion border Hypertelorism Hip dysplasia Respiratory tract infection Hearing impairment Sparse hair Motor delay Growth delay Hyperactivity Frontal bossing Downslanted palpebral fissures Aggressive behavior Low anterior hairline Thick lower lip vermilion Dandy-Walker malformation Wide nose Thick eyebrow Long philtrum Ptosis Intrauterine growth retardation Recurrent infections Hypoplasia of the corpus callosum Short phalanx of finger Infantile spasms

Rare Symptoms - Less than 30% cases

Optic atrophy Cleft palate Intellectual disability, moderate Pectus excavatum Underdeveloped nasal alae Talipes equinovarus Constipation Long palpebral fissure Cataract Shortening of all distal phalanges of the fingers Respiratory distress Recurrent respiratory infections Prominent forehead Failure to thrive Bulbous nose Everted lower lip vermilion Delayed eruption of teeth Hypoplasia of the maxilla Hypodontia Prominent nasal tip Macrotia Wide nasal bridge Muscular hypotonia of the trunk 2-3 toe syndactyly Tapered finger Blindness Atrial septal defect Long eyelashes Abnormal corpus callosum morphology Attention deficit hyperactivity disorder Cerebral atrophy Downturned corners of mouth Abnormal heart morphology Absent speech Abnormality of the hand Short philtrum Short neck Ventricular septal defect Plagiocephaly Peripheral neuropathy Myopia Hyporeflexia Neonatal hypotonia Abnormality of the nervous system Renal agenesis Abnormality of the skin Myoclonus Nail dystrophy Nail dysplasia Prominent nose Muscular hypotonia Polyneuropathy Sloping forehead Capillary malformation Sensorineural hearing impairment Short toe High myopia Oligohydramnios Ventricular hypertrophy Vesicoureteral reflux Tetraparesis Wide anterior fontanel Progressive microcephaly Delayed myelination Diaphragmatic eventration Spastic tetraparesis Abnormal hair whorl Patent foramen ovale Cortical gyral simplification Spasticity Periventricular leukomalacia Severe global developmental delay Central hypotonia Short 5th finger Right ventricular hypertrophy Small for gestational age Hemiclonic seizures Bilateral sensorineural hearing impairment Short foot Hypsarrhythmia Narrow palpebral fissure Elevated alkaline phosphatase Hip contracture Large earlobe Chronic lung disease Thickened helices Enterocolitis Echogenic fetal bowel EEG with multifocal slow activity Midface retrusion Hernia Short middle phalanx of finger Deep philtrum Clinodactyly of the 5th finger Arachnoid cyst Posteriorly rotated ears Gastroesophageal reflux Kyphoscoliosis Retrognathia Finger clinodactyly Wormian bones Conductive hearing impairment Stereotypy Anxiety Broad nasal tip Single transverse palmar crease Low-set, posteriorly rotated ears High, narrow palate Disproportionate short-limb short stature Knee flexion contracture Abnormality of the fingernails Inguinal hernia Abnormal dermatoglyphics Triphalangeal thumb Anonychia Severe sensorineural hearing impairment Hypoplasia of the iris Cystic renal dysplasia Profound sensorineural hearing impairment Strabismus Flexion contracture Vomiting Tics Small hand Elevated serum creatine phosphokinase Elbow flexion contracture Abdominal pain Polyhydramnios Osteopenia Deeply set eye Developmental regression Congenital cataract Limb undergrowth Narrow forehead Large forehead Abnormal lung morphology High anterior hairline Cerebral visual impairment Aspiration Dilatation Abnormal oral mucosa morphology Aplasia of the 1st metacarpal Abnormality of the pinna Nyctalopia Retinal degeneration Renal cyst Short metacarpal Horseshoe kidney Congenital blindness Metaphyseal chondrodysplasia Visual impairment Abnormality of cardiovascular system morphology Delayed skeletal maturation Agenesis of corpus callosum Highly arched eyebrow Rod-cone dystrophy Macroglossia Hypertrichosis Aplasia/Hypoplasia of the distal phalanges of the hand Prominent interphalangeal joints Absent fifth toenail Absent fifth fingernail Hypertension Fever Intellectual disability, severe Abnormality of the dentition Immunodeficiency Hyperhidrosis Craniosynostosis Malar flattening Dry skin Cholestasis Diarrhea Acidosis Feeding difficulties in infancy Abnormal pyramidal sign Lethargy Abnormality of the cerebral white matter Anal atresia Cirrhosis Dyskinesia Metabolic acidosis Brain atrophy Excessive daytime somnolence Macrocephaly Reduced consciousness/confusion Morphological abnormality of the pyramidal tract Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Cerebellar hypoplasia Arachnodactyly Sandal gap Hypoplastic toenails Slender finger Dystrophic toenail Thick nasal alae Hypotrichosis Ectodermal dysplasia Hyperacusis Gait ataxia Everted upper lip vermilion Periorbital wrinkles Periorbital hyperpigmentation Aplasia/Hypoplastia of the eccrine sweat glands Hypoplastic-absent sebaceous glands Hyperreflexia Dysphagia Abnormality of the skeletal system Behavioral abnormality Kyphosis Upslanted palpebral fissure Pes planus Anhidrotic ectodermal dysplasia Abnormal cardiac septum morphology Broad forehead Synophrys Facial asymmetry Syncope Dental crowding Obsessive-compulsive behavior Absent radius Ventricular extrasystoles Abnormality of finger Mild global developmental delay Obsessive-compulsive trait Hypohidrotic ectodermal dysplasia Absent nipple Microdontia Absent eyebrow Eczema Depressed nasal ridge Thin skin Hypohidrosis Sparse and thin eyebrow Hoarse voice Type I diabetes mellitus Short chin Sparse eyelashes Dysphonia Prominent supraorbital ridges Brittle hair Anhidrosis Concave nail Aplasia/Hypoplasia of the eyebrow Agenesis of permanent teeth Sparse body hair Hypoplastic nipples Rhinitis Absent eyelashes Soft skin Taurodontia Anodontia Heat intolerance Conical tooth Anterior hypopituitarism Testicular torsion


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Migraine, related diseases and genetic alterations