Abnormal facial shape, and Feeding difficulties in infancy

Diseases related with Abnormal facial shape and Feeding difficulties in infancy

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Feeding difficulties in infancy that can help you solving undiagnosed cases.


Top matches:

Low match MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5


Related symptoms:

  • Abnormal facial shape
  • Cognitive impairment
  • Feeding difficulties
  • Epicanthus
  • Vomiting


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5; MC3DN5

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2


Combined oxidative phosphorylation defect type 2 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by severe intrauterine growth retardation, neonatal limb edema and redundant skin on the neck (hydrops), developmental brain defects (corpus callosum agenesis, ventriculomegaly), brachydactyly, dysmorphic facial features with low set ears, severe intractable neonatal lactic acidosis with lethargy, hypotonia, absent spontaneous movements and fatal outcome. Markedly decreased activity of complex I, II + III and IV in muscle and liver have been determined.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2 Is also known as coxpd2|corpus callosum, agenesis of, with dysmorphism and fatal lactic acidosis

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly
  • Ventriculomegaly
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 2

Low match PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A


The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 3 (CG3) have mutations in the PEX12 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Low-set ears
  • Hepatomegaly
  • Wide nasal bridge


SOURCES: MESH OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER); PBD3A

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Other less relevant matches:

Low match CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE


Congenital lethal myopathy, Compton-North type is a rare, genetic, lethal, non-dystrophic congenital myopathy disorder characterized, antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. Ultrastructurally, loss of integrin alpha7, beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band are observed.

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • High palate


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LETHAL MYOPATHY, COMPTON-NORTH TYPE

Low match NOONAN SYNDROME 7; NS7


Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 7; NS7

Low 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

Low match CHERUBISM


Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.

CHERUBISM Is also known as crbm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Visual impairment
  • Peripheral neuropathy
  • Optic atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHERUBISM

Low match INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED


Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

Low match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

Low match MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with cholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11 Is also known as cms1e, formerly|myasthenic syndrome, congenital, ie, formerly|cms ie, formerly

Related symptoms:

  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: MESH OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS11

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Feeding difficulties in infancy

Symptoms // Phenotype % cases
Low-set ears Common - Between 50% and 80% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Poor suck Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Feeding difficulties in infancy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Flexion contracture Neonatal hypotonia Patent ductus arteriosus Seizures Metabolic acidosis Acidosis

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Vomiting High palate Areflexia Global developmental delay Wide nasal bridge Dolichocephaly Decreased fetal movement Lethargy Small for gestational age Growth delay Short stature Cognitive impairment Lactic acidosis Increased serum lactate Prominent forehead Elevated hepatic transaminase Spastic diplegia Aganglionic megacolon Intestinal malrotation Abdominal distention Intestinal obstruction Smooth philtrum Multiple lipomas Arthropathy Volvulus Hydronephrosis Pyloric stenosis Scarring Round face Thrombocytopenia Upper airway obstruction Oligodontia Abnormality of the voice Clubbing Abnormality of dental morphology Constriction of peripheral visual field Striae distensae Optic neuropathy Obstructive sleep apnea Clubbing of fingers Downslanted palpebral fissures Bone cyst Intestinal pseudo-obstruction Full cheeks Abnormality of the mandible Macular scar Progressive visual loss Marcus Gunn pupil Lower eyelid retraction Failure to thrive Broad jaw Small hand Increased mean platelet volume Falls Respiratory insufficiency Respiratory distress Mandibular prognathia Apnea Respiratory tract infection Arthrogryposis multiplex congenita Long face Generalized muscle weakness Muscle weakness Dental malocclusion Frequent falls Narrow palpebral fissure Easy fatigability Gowers sign Multiple joint contractures Prominent occiput Weak cry Ptosis Micrognathia Congenital shortened small intestine Retrognathia Increased size of the mandible Cryptorchidism Motor delay Macrocephaly Frontal bossing Hypospadias Delayed skeletal maturation Proptosis Penoscrotal hypospadias Triangular face Ambiguous genitalia Decreased body weight Finger clinodactyly Relative macrocephaly Pterygium Melanocytic nevus Unilateral cryptorchidism Craniosynostosis Short phalanx of finger Reduced visual acuity Polyhydramnios Flat face Bradycardia Polycystic kidney dysplasia Epiphyseal stippling Generalized neonatal hypotonia Myopathy Camptodactyly Dilatation Arachnodactyly High, narrow palate Single transverse palmar crease Joint contracture of the hand Respiratory insufficiency due to muscle weakness Akinesia Scaphocephaly High forehead Hepatomegaly Overlapping fingers Abnormality of coagulation Epicanthus Hypoglycemia Abnormality of the liver Decreased liver function Tachypnea Hyperammonemia Abnormality of mitochondrial metabolism Ketosis Redundant neck skin Increased serum pyruvate Brachydactyly Ventriculomegaly Edema Agenesis of corpus callosum Redundant skin Hypokinesia Fetal akinesia sequence Oval face Visual loss Reduced consciousness/confusion Dyskinesia Brain atrophy Hip dysplasia Cholestasis Plagiocephaly Infantile spasms Excessive daytime somnolence Morphological abnormality of the pyramidal tract Cirrhosis Intractable diarrhea Extrapyramidal dyskinesia Reduced dihydropyrimidine dehydrogenase activity Neoplasm Visual impairment Optic atrophy Abnormality of the dentition Short distal phalanx of finger Anal atresia Scoliosis Webbed neck Depressed nasal bridge Dysphagia Abnormality of the skeletal system Short neck Atrial septal defect Pectus carinatum Pulmonic stenosis Narrow forehead Abnormality of the cerebral white matter Hyperpigmentation of the skin Mild short stature Thickened helices Delayed speech and language development Talipes equinovarus Diarrhea Abnormal pyramidal sign Fatigable weakness



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