Feeding difficulties, and Skeletal dysplasia

Diseases related with Feeding difficulties and Skeletal dysplasia

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

Top matches:

Low match JEUNE SYNDROME

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.

JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn|jatd|jeune asphyxiating thoracic dystrophy

Related symptoms:

  • Short stature
  • Brachydactyly
  • Respiratory insufficiency
  • Renal insufficiency
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about JEUNE SYNDROME

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy (summary by Nurnberg et al., 1997).The delineation of separate autosomal dominant and autosomal recessive (CMDR ) forms of CMD by Gorlin et al. (1969) was confirmed by reports that made it evident that the dominant form is relatively mild and comparatively common, while the recessive form is rare, severe, and possibly heterogeneous.

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD Is also known as cmdj|cmd|craniometaphyseal dysplasia, jackson type

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; CMDD

Other less relevant matches:

Shwachman-Diamond syndrome-2 (SDS2) is characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia (Stepensky et al., 2017).For a discussion of genetic heterogeneity of Shwachman-Diamond syndrome, see SDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME 2; SDS2

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

D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

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

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYGGVE-MELCHIOR-CLAUSEN DISEASE; DMC

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Feeding difficulties and Skeletal dysplasia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Feeding difficulties and Skeletal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Generalized hypotonia Scoliosis Low-set ears Muscular hypotonia Mandibular prognathia Blindness Macrocephaly Wide nasal bridge Metaphyseal widening Short neck Coarse facial features Flexion contracture Downslanted palpebral fissures Feeding difficulties in infancy Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Hypertelorism Hearing impairment Prominent forehead Conductive hearing impairment Apnea Facial palsy Brachycephaly Metaphyseal dysplasia Respiratory distress Telecanthus Ventriculomegaly Ectopic thyroid Muscle weakness Seizures Short metacarpal Failure to thrive High palate Malar flattening Rhizomelia Severe muscular hypotonia Metaphyseal irregularity Frontal bossing Abnormality of the skeletal system Cerebral cortical atrophy Epicanthus Micromelia Constipation Hypothyroidism Abnormality of pelvic girdle bone morphology Abnormality of the metaphysis Limitation of joint mobility Brachydactyly Lethargy Genu valgum Ptosis Stridor Recurrent fractures Open mouth Generalized muscle weakness Knee flexion contracture Narrow forehead Short palpebral fissure Abnormal autonomic nervous system physiology Severe short stature Multiple skeletal anomalies Elbow flexion contracture Hypohidrosis Tented upper lip vermilion Bowing of the long bones Congenital contracture Gowers sign Myopathic facies Long face Ankle contracture Restrictive deficit on pulmonary function testing Oligohydramnios Paresthesia Asthma Malignant hyperthermia Downturned corners of mouth Abnormality of vision Talipes Kyphosis Skeletal muscle atrophy Motor delay Cognitive impairment Myopathy Cryptorchidism Cleft palate Postnatal growth retardation Absent patellar reflexes Smooth tongue Flexion contracture of finger Decreased corneal reflex Thickened cortex of long bones Lacrimation abnormality Abnormal cortical bone morphology Abnormality of the foot Midface retrusion Pectus excavatum Areflexia Trismus Hyporeflexia Kyphoscoliosis Proximal muscle weakness Episodic fever Impaired pain sensation Blepharophimosis Arthrogryposis multiplex congenita Fever Sacral dimple Camptodactyly Cone-shaped epiphyses of the phalanges of the hand Paralysis Low posterior hairline Hydroureter Trigonocephaly Mutism Lissencephaly Pointed chin Large fontanelles Pachygyria Specific learning disability Aphasia Webbed neck Prominent nose Full cheeks Microcornea Highly arched eyebrow Iris coloboma Wide nose Delayed cranial suture closure Dysphasia Thin vermilion border Optic nerve coloboma Osteochondrosis Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Macrogyria Subcortical cerebral atrophy Abnormality of the upper urinary tract Echolalia Long nose Heterochromia iridis Depressed nasal tip Short columella Transient ischemic attack Palpebral edema Prominent metopic ridge Long palpebral fissure Polymicrogyria Wide mouth Hip dislocation Thickened calvaria Hypoplastic scapulae Barrel-shaped chest Spinal cord compression Abnormality of the eye Broad foot Thoracic kyphosis Hypoplasia of the odontoid process Disproportionate short stature Beaking of vertebral bodies Broad palm Epiphyseal dysplasia Short metatarsal Lumbar hyperlordosis Waddling gait Platyspondyly Severe global developmental delay Hypoplastic iliac wing Flat acetabular roof Joint stiffness Flat glenoid fossa Hydronephrosis Retrognathia Long philtrum Multicentric ossification of proximal humeral epiphyses Multicentric ossification of proximal femoral epiphyses Deformed sella turcica Iliac crest serration Wide pubic symphysis Disproportionate short-trunk short stature Abnormal enchondral ossification Hypoplastic facial bones Enlargement of the costochondral junction Atlantoaxial instability Narrow greater sacrosciatic notches Prominent sternum Carpal bone hypoplasia Shield chest Camptodactyly of finger Aortic regurgitation Osteopenia Chronic otitis media Misalignment of teeth Abnormality of the vertebral column Mixed hearing impairment Osteomyelitis Flared metaphysis Hyperostosis Increased susceptibility to fractures Sclerosis of skull base Tinnitus Overgrowth Otitis media Delayed eruption of teeth Sensorineural hearing impairment Thyroid hemiagenesis Nasal obstruction Abnormality of the nasopharynx Large posterior fontanelle Anemia High myopia Neutropenia Respiratory tract infection Thrombocytopenia Diarrhea Myopia Bony paranasal bossing Cranial nerve compression Club-shaped distal femur Asymmetry of the mandible Calvarial osteosclerosis Bilateral facial palsy Unilateral facial palsy Erlenmeyer flask deformity of the femurs Thyroid dysgenesis Thyroid agenesis Laryngomalacia Abnormality of the ribs Postaxial foot polydactyly Abnormality of the sternum Nephronophthisis Short thorax Cone-shaped epiphysis Abnormality of retinal pigmentation Postaxial hand polydactyly Abnormality of the clavicle Short foot Nephropathy Toe syndactyly Narrow chest Abnormality of the liver Renal insufficiency Aplasia/Hypoplasia of the lungs Delayed skeletal maturation Hoarse cry Goiter Increased thyroid-stimulating hormone level Thyroid hypoplasia Hypothermia Congenital hypothyroidism Spondyloepiphyseal dysplasia Myotonia Hyperbilirubinemia Umbilical hernia Bradycardia Abnormal vertebral morphology Growth hormone deficiency Macroglossia Abdominal distention Dry skin Carcinoma Genu varum Mild short stature Hyperhidrosis Involuntary movements Increased CSF protein Turricephaly Focal impaired awareness seizure Shock Absence seizures Cerebral visual impairment Hypsarrhythmia Delayed CNS myelination Epileptic encephalopathy Focal-onset seizure Aciduria Broad nasal tip Flat face Dolichocephaly Dilation of lateral ventricles Periventricular leukomalacia Irritability Subependymal cysts Osteoporosis Abnormality of the dentition Talipes equinovarus Intrauterine growth retardation Multifocal cerebral white matter abnormalities D-2-hydroxyglutaric aciduria Cardiogenic shock Episodic vomiting Glutaric aciduria Infantile encephalopathy Anteverted ears Narrow naris Inspiratory stridor Generalized tonic seizures Protruding ear Hyperactivity Neurodevelopmental delay Subglottic stenosis Macrotia Rod-cone dystrophy Ventricular septal defect Delayed speech and language development Hyperechogenic pancreas Laryngeal cleft Normocytic anemia Craniosynostosis Prolonged prothrombin time Prolonged partial thromboplastin time Mild global developmental delay Severe failure to thrive Exocrine pancreatic insufficiency Steatorrhea Intellectual disability, moderate Nyctalopia Myoclonus Visual impairment Encephalopathy Cerebral atrophy Behavioral abnormality Vomiting Cardiomyopathy Anteverted nares Abnormal facial shape Retinal degeneration Metaphyseal chondrodysplasia Congenital blindness Horseshoe kidney Small nail Underdeveloped nasal alae Renal cyst Short distal phalanx of finger Euryblepharon


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