Abnormal facial shape, and Decreased body weight

Diseases related with Abnormal facial shape and Decreased body weight

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 19; MRX19


X-linked mental retardation-19 (MRX19) is a nonsyndromic form of mild to moderate mental retardation. Carrier females may be mildly affected. Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome (CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. Some patients with RPS6KA3 mutations have an intermediate phenotype with mental retardation and only mild anomalies reminiscent of CLS. These individuals have mutations resulting in some residual protein function, which likely explains the milder phenotype (summary by Field et al., 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED 19; MRX19

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • High palate
  • Macrocephaly
  • Frontal bossing


SOURCES: OMIM MESH MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14

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Other less relevant 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 THREE M SYNDROME 3; 3M3


The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (OMIM ).

THREE M SYNDROME 3; 3M3 Is also known as 3m syndrome 3

Related symptoms:

  • Short stature
  • Growth delay
  • Frontal bossing
  • Abnormality of the skeletal system
  • Anteverted nares


SOURCES: OMIM MENDELIAN

More info about THREE M SYNDROME 3; 3M3

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

Low match PRIMARY DYSTONIA, DYT4 TYPE


DYT4 type primary dystonia is characterized by predominantly laryngeal dystonia (manifesting as whispering dysphonia) and cervical dystonia (manifesting as torticollis).

PRIMARY DYSTONIA, DYT4 TYPE Is also known as dystonia musculorum deformans 4|whispering dysphonia, hereditary|dyt4|hereditary whispering dysphonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Respiratory distress
  • Dystonia
  • Dementia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY DYSTONIA, DYT4 TYPE

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

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Decreased body weight

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Prominent forehead Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Decreased body weight. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Seizures Small for gestational age Scoliosis Triangular face Depressed nasal bridge Short stature Hypertelorism

Rare Symptoms - Less than 30% cases


Macrocephaly Malar flattening Anteverted nares Growth delay Narrow face Intellectual disability, severe Wide nasal bridge Wide nose Protruding ear Hepatomegaly Intellectual disability, mild Coarse facial features Thick lower lip vermilion Abnormality of the skeletal system Kyphoscoliosis Microcephaly Long foot Delayed speech and language development Toe walking Limb dystonia Generalized dystonia Torsion dystonia Blepharospasm Laryngeal dystonia Dysphonia Eunuchoid habitus Upper limb postural tremor Lingual dystonia Sunken cheeks Dysdiadochokinesis Ventriculomegaly Torticollis Involuntary movements Abnormal heart morphology Open mouth Gait ataxia Dementia Dystonia Respiratory distress Dysphagia Gait disturbance Decreased serum iron Uncombable hair Pili canaliculi Intractable diarrhea Chronic hepatitis Movement abnormality of the tongue Hyperactivity Constipation Deeply set eye CNS hypomyelination Multiple renal cysts Severe failure to thrive Large face Low-set ears Severe short stature Anxiety Lissencephaly Wide mouth Short philtrum Poor speech Thick vermilion border Broad-based gait Infantile muscular hypotonia Severe muscular hypotonia Hypochromic microcytic anemia Underdeveloped superior crus of antihelix Neonatal hypotonia Abnormality of the pinna Relative macrocephaly Anteriorly placed anus Large forehead Frontal upsweep of hair High forehead Decreased liver function Elevated hepatic transaminase Apnea Polymicrogyria Renal cyst Large fontanelles Wide anterior fontanel Bloody diarrhea Colitis Trichorrhexis nodosa Growth abnormality Aortic valve stenosis Nephrolithiasis Dehydration Pulmonic stenosis Lethargy Abnormality of the eye Weight loss Vomiting Muscular hypotonia Slender build Abnormality of the musculature Abnormality of the sternum Nasal speech Dental crowding Hypercalciuria Hypoplasia of the maxilla Long face Arachnodactyly Narrow chest Prominent nasal bridge Pectus carinatum Mandibular prognathia Pectus excavatum Kyphosis Strabismus High palate Appendicular hypotonia Arachnoid cyst Intellectual disability, profound Nephrocalcinosis Hypercalcemia Villous atrophy Increased vertebral height Woolly hair Microcytic anemia Cerebral atrophy Brittle hair Chronic diarrhea Hepatitis Cirrhosis Sparse hair Abnormality of the liver Immunodeficiency Diarrhea Intrauterine growth retardation Motor delay Anemia Slender long bone Polyuria Short thorax Pointed chin Hip dysplasia Dolichocephaly Hyperlordosis Clinodactyly Midface retrusion Intellectual disability, moderate Long philtrum Short neck Broad nasal tip Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Widely spaced teeth



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