Abnormal facial shape, and Failure to thrive

Diseases related with Abnormal facial shape and Failure to thrive

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


Top matches:

Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

Low match TRICHOHEPATOENTERIC SYNDROME 2; THES2


Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

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Other less relevant matches:

Low match FG SYNDROME 2; FGS2


Although the phenotypic spectrum and severity of FG syndrome is wide, the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation (Unger et al., 2007).For a general phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 2; FGS2

Low match PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A


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 13 (CG13, equivalent to CGH) have mutations in the PEX13 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER); PBD11A

Low match MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE


Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.

MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE Is also known as facial dysmorphism, intellectual disability, and primordial dwarfism|alazami syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM, ALAZAMI TYPE

Low match LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS


LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS

Low match LARGE CONGENITAL MELANOCYTIC NEVUS


A large, or giant, congenital melanocytic nevus (LCMN or GCMN) is a pigmented skin lesion of more than 20 cm - or 40 cm- respectively, projected adult diameter, composed of melanocytes, and presenting with an elevated risk of malignant transformation.

LARGE CONGENITAL MELANOCYTIC NEVUS Is also known as gphn|pigmented moles|lcmn|giant congenital pigmented nevus|giant congenital melanocytic nevus|congenital pigmented nevus|giant pigmented hairy nevus|gmn

Related symptoms:

  • Seizures
  • Hypertelorism
  • Neoplasm
  • Failure to thrive
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about LARGE CONGENITAL MELANOCYTIC NEVUS

Low match INTELLECTUAL DISABILITY-STRABISMUS SYNDROME


Intellectual disability-strabismus syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by moderate to severe intellectual disability and esotropia. Other associated features may include growth failure (underweight, failure to thrive, short stature), microcephaly, tone abnormalities (hypotonia, spasticity), epilepsy, behavioral problems (hyperactivity, aggressiveness), and/or abnormal brain morphology, including arachnoid cyst, cerebral atrophy, mild ventriculomegaly, abnormal CNS myelination or corpus callosum agenesis.

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-STRABISMUS SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Failure to thrive

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Failure to thrive. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Global developmental delay Microcephaly Hyperactivity Strabismus

Rare Symptoms - Less than 30% cases


Cognitive impairment Wide nose Hepatomegaly Wide nasal bridge Immunodeficiency Macrocephaly Feeding difficulties Frontal bossing Delayed myelination Growth delay Wide anterior fontanel Broad forehead Deeply set eye Triangular face Poor speech Ventriculomegaly Hypermelanotic macule Muscular hypotonia of the trunk Focal-onset seizure Delayed gross motor development Postnatal macrocephaly Recurrent infections Midface retrusion Pneumonia Eczema Upslanted palpebral fissure Abnormal lung morphology Failure to thrive in infancy Emphysema Chromosome breakage Mild global developmental delay Epicanthus Behavioral abnormality Generalized myoclonic seizures Bronchiolitis Tremor Thick vermilion border Broad-based gait Decreased body weight Widely spaced teeth Growth hormone deficiency Esotropia Gastroesophageal reflux Hypothyroidism Telecanthus Hyperlordosis Microtia Aggressive behavior Neurological speech impairment Long face Prominent superficial veins Nevus spillus Melanocytic nevus Narrow nasal ridge Generalized hirsutism Neoplasm of the skin Epidermal nevus Cutaneous melanoma Hypopigmented skin patches Melanoma Thick hair Open mouth Rhabdomyosarcoma Sarcoma Periorbital fullness Calvarial skull defect Narrow nasal bridge Deep philtrum Subcutaneous nodule Prominence of the premaxilla Congenital giant melanocytic nevus Short nose Dermal translucency Abnormality of the thymus Increased sensitivity to ionizing radiation Bronchiolitis obliterans Neoplasm Hydrocephalus Long philtrum Round face Papule Pruritus Abnormality of skin pigmentation Short philtrum Broad nasal tip Full cheeks Nevus Everted lower lip vermilion Multiple renal cysts Wide mouth Sparse hair Medullary nephrocalcinosis Elfin facies Anemia Intrauterine growth retardation Diarrhea Abnormality of the liver Small for gestational age Polyuria Cirrhosis Hepatitis Chronic diarrhea Brittle hair Colitis Microcytic anemia Woolly hair Infantile hypercalcemia Hypercalcemia Trichorrhexis nodosa Weight loss Cerebral atrophy Coarse facial features Intellectual disability, profound Arachnoid cyst Appendicular hypotonia Muscular hypotonia Vomiting Abnormality of the eye Hypercalciuria Lethargy Pulmonic stenosis Dehydration Thick lower lip vermilion Nephrolithiasis Aortic valve stenosis Nephrocalcinosis Villous atrophy Hypochromic microcytic anemia Anxiety CNS hypomyelination Polymicrogyria Renal cyst Large fontanelles Decreased liver function Severe muscular hypotonia Lissencephaly Infantile muscular hypotonia Severe failure to thrive Elevated hepatic transaminase Large face Short stature Scoliosis Low-set ears Intellectual disability, severe Malar flattening Severe short stature Apnea High forehead Bloody diarrhea Constipation Chronic hepatitis Intractable diarrhea Pili canaliculi Uncombable hair Decreased serum iron Delayed speech and language development Abnormal heart morphology Neonatal hypotonia Anteverted nares Abnormality of the pinna Protruding ear Relative macrocephaly Anteriorly placed anus Large forehead Frontal upsweep of hair Underdeveloped superior crus of antihelix Neurodevelopmental delay



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Asthma, related diseases and genetic alterations Intellectual disability, severe and Hirsutism, related diseases and genetic alterations Macrocephaly and Abnormal cerebellum morphology, related diseases and genetic alterations Low-set ears and Apraxia, related diseases and genetic alterations Immunodeficiency and Pulmonic stenosis, related diseases and genetic alterations

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